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CA II Community@CII2_mutation

For Researchers & Academics

For Researchers & Academics

This page is a gateway to the existing academic library. Short notes on this site do not replace the source, and case reports or laboratory studies are not presented as established treatment.

Last editorial review: September 2026

Open the full academic library

If you are reading as a family rather than as a researcher, begin at Start here.

—Unique studies in the library
—Countries represented in evidence maps
—Languages (Arabic / English)
—Printable PDF files

Inside the library

Academic Research HubThe full library, with search and filters. Key and founding referencesPublished titles with their own URLs. GeneticsThe CA2 gene and its genomic location. Mutations and Saudi studiesWhat the literature documents, including c.232+1G>A. Renal, osteopetrosis, neurology, dentalFollow each paper’s own title in the library, not a treatment grouping. Basic science and case reportsKept distinct from clinical evidence and established treatment.

Reference databases

OMIM

Disease entry #259730 and gene entry 611492. A naming and phenotype index, not a local clinical register.

NCBI Gene

The CA2 gene page, Gene ID 760, and a starting point for sequence-linked records.

ClinVar

A public archive of submitted variants for the gene. Classification belongs to the submitter, not this site.

ClinGen

A community view of gene-level evidence. A page does not mean every clinical claim is settled.

GenCC

Collected gene–disease validity assertions from contributing sources.

Orphanet

A rare-disease entry for the condition linked to enzyme deficiency.

MedGen

A search of the NCBI disease vocabulary related to the condition.

GTR

A directory of registered genetic tests. Listing is not an endorsement of a laboratory.

UniProt

The protein record for human carbonic anhydrase 2.

Ensembl

A genome browser view of CA2 on the reference assembly.

LOVD

A public variant database for the gene, where records exist.

Human Protein Atlas

General protein-expression data, not a description of any one person’s disease.

PubMed

A search of indexed articles. Results are not a treatment choice.

Europe PMC

A parallel literature search, including open full texts where available.

CA II literature

Researchers & Authors in CA II Literature

This registry highlights authors and institutions represented in published CA II literature. It is not a ranking of clinicians or a recommendation of current healthcare providers.

Pioneering / Historical contributors

Selected early and foundational contributors documented in the current CA II library.

Sakati NEarly published contributor to Saudi CA II literature
King Faisal Specialist Hospital and Research Centre · Saudi Arabia
2 papers in library · 1980–2002View related papers: PubMed 7358236 · PubMed 11938359
Roth DEGene / mutation-era contributor
Saint Louis University School of Medicine · USA
2 papers in library · 1992View related papers: PubMed 1542674 · PubMed 1301935
Fathallah DMPublished regional mutation literature contributor
Institut Pasteur de Tunis · Tunisia
2 papers in library · 1994–1997View related papers: PubMed 7959703 · PubMed 9150731
Cumming WAPublished imaging literature contributor
—
2 papers in library · 1985–1986View related papers: PubMed 2413500 · PubMed 3081869

Key recurring contributors

Authors with more than one CA II paper in this library who are not already listed above under pioneering contributors.

Most frequent names already shown above (library paper counts): Sly WS (18), Tashian RE (8), Whyte MP (7), Venta PJ (6), Guibaud P (4), Hu PY (4), Ohlsson A (3), Sundaram V (3), Fathallah DM (2), Sakati N (2), Cumming WA (2), Roth DE (2).

McMahon C
Children's University Hospital, Dublin · Ireland
2 papers in library · 2001–2005View related papers: PubMed 15701991 · PubMed 11264157
Shah GN
Department of Biochemistry, Saint Louis University School of Medicine, St. Louis, MO 63104, USA
2 papers in library · 2001–2004View related papers: PubMed 15300855 · PubMed 11264157
Sato S
Saint Louis University School of Medicine · USA
2 papers in library · 1990–1991View related papers: PubMed 2117271 · PubMed 1959222
Almstedt K
Linköping University (IFM Chemistry) · Sweden
2 papers in library · 2008–2009View related papers: PubMed 18189416 · PubMed 19415900
Aramaki S
Kurume University School of Medicine · Japan
2 papers in library · 1993–1998View related papers: PubMed 9645149 · PubMed 8127074

Contributors to Saudi CA II Literature

Authors who appear on Saudi-tagged CA II papers in this library. This label marks contribution to Saudi published literature, not nationality.

Sakati N
King Faisal Specialist Hospital and Research Centre · Saudi Arabia
2 papers in library · 1980–2002View related papers: PubMed 7358236 · PubMed 11938359
Awad M
King Faisal Specialist Hospital and Research Centre · Saudi Arabia
1 paper in library · 2002View related papers: PubMed 11938359
Al-Ashwal AA
King Faisal Specialist Hospital and Research Centre · Saudi Arabia
1 paper in library · 2002View related papers: PubMed 11938359
Al-Abbad AA
King Faisal Specialist Hospital and Research Centre · Saudi Arabia
1 paper in library · 2002View related papers: PubMed 11938359
Bin-Abbas BS
King Faisal Specialist Hospital and Research Centre · Saudi Arabia
1 paper in library · 2002View related papers: PubMed 11938359
Al Rajeh S
King Fahd Hospital of the University / King Faisal University · Saudi Arabia
1 paper in library · 1988View related papers: PubMed 3221988
Muzalef A
Asir Central Hospital / King Khalid University · Saudi Arabia
1 paper in library · 2005View related papers: PubMed 16156988
Alshehri M
Asir Central Hospital / King Khalid University · Saudi Arabia
1 paper in library · 2005View related papers: PubMed 16156988
Moammar H
King Faisal University, Dhahran (Eastern Province cohort) · Saudi Arabia
1 paper in library · 2010View related papers: PubMed 20622343
Al-Sannaa N
King Faisal University, Dhahran (Eastern Province cohort) · Saudi Arabia
1 paper in library · 2010View related papers: PubMed 20622343
Bosley TM
King Saud University · Saudi Arabia
1 paper in library · 2011View related papers: PubMed 22120147
Salih MA
King Saud University · Saudi Arabia
1 paper in library · 2011View related papers: PubMed 22120147
Alsharidi A
King Saud University · Saudi Arabia
1 paper in library · 2016View related papers: PubMed 28509178
Alsuwaida A
King Saud University · Saudi Arabia
1 paper in library · 2016View related papers: PubMed 28509178
Al-Hamed M
King Faisal Specialist Hospital and Research Centre · Saudi Arabia
1 paper in library · 2016View related papers: PubMed 28509178
Alhuzaim ON
King Fahad Medical City · Saudi Arabia
1 paper in library · 2015View related papers: PubMed 25674028
Almohareb OM
King Fahad Medical City · Saudi Arabia
1 paper in library · 2015View related papers: PubMed 25674028
Sherbeeni SM
King Fahad Medical City · Saudi Arabia
1 paper in library · 2015View related papers: PubMed 25674028
Alayed Y
King Fahad Medical City · Saudi Arabia
1 paper in library · 2024View related papers: PubMed 38328522 · ORCID
Alghamdi W
King Saud Medical City · Saudi Arabia
1 paper in library · 2024View related papers: PubMed 38328522
Alyousef R
King Saud Medical City · Saudi Arabia
1 paper in library · 2024View related papers: PubMed 38328522
AlFaris B
King Fahad Medical City · Saudi Arabia
1 paper in library · 2025View related papers: PubMed 39667299
Bashiri FA
King Saud University Medical City · Saudi Arabia
1 paper in library · 2025View related papers: PubMed 39667299
Hamad MH
King Saud University Medical City · Saudi Arabia
1 paper in library · 2025View related papers: PubMed 39667299
Kentab A
King Saud University Medical City · Saudi Arabia
1 paper in library · 2025View related papers: PubMed 39667299
Alghamdi M
King Saud University / King Saud University Medical City · Saudi Arabia
1 paper in library · 2025View related papers: PubMed 39667299
AlBader FB
King Saud University Medical City · Saudi Arabia
1 paper in library · 2025View related papers: PubMed 39667299
AlSheikh R
King Saud Medical City · Saudi Arabia
1 paper in library · 2025View related papers: PubMed 39667299
Al-Ibrahim A
Suleimania Children's Hospital, Riyadh · Saudi Arabia
1 paper in library · 2003View related papers: PubMed 17657093

Institutions in published CA II literature

Selected institutions named in affiliations or documented study settings for papers in this library. Names are kept as represented in sources. King Saud University Medical City and King Saud Medical City are listed separately.

Saudi institutions

King Faisal Specialist Hospital and Research CentreInstitution represented in published CA II literature
Riyadh, Saudi Arabia
hospital
King Fahad Medical CityInstitution represented in published CA II literature
Riyadh, Saudi Arabia
hospital
King Saud UniversityInstitution represented in published CA II literature
Riyadh, Saudi Arabia
university
King Saud University Medical CityInstitution represented in published CA II literature
Riyadh, Saudi Arabia
hospital
King Saud Medical CityInstitution represented in published CA II literature
Riyadh, Saudi Arabia
hospital
King Fahd Hospital of the University / King Faisal UniversityInstitution represented in published CA II literature
Dammam, Saudi Arabia
hospital
Asir Central Hospital / King Khalid UniversityInstitution represented in published CA II literature
Abha, Saudi Arabia
hospital
Al Rass General HospitalInstitution represented in published CA II literature
Al-Rass, Qassim, Saudi Arabia
hospital
Suleimania Children's HospitalInstitution represented in published CA II literature
Riyadh, Saudi Arabia
hospital

International institutions

Saint Louis University School of MedicineInstitution represented in published CA II literature
St. Louis, USA
university
Washington UniversityInstitution represented in published CA II literature
St. Louis, USA
university
Kurume University School of MedicineInstitution represented in published CA II literature
Kurume, Japan
university
Institut Pasteur de TunisInstitution represented in published CA II literature
Tunis, Tunisia
research center
EPS Mongi SlimInstitution represented in published CA II literature
La Marsa, Tunisia
hospital
Ankara University Faculty of MedicineInstitution represented in published CA II literature
Ankara, Turkey
university
All India Institute of Medical Sciences (AIIMS)Institution represented in published CA II literature
New Delhi, India
university
Amrita Institute of Medical SciencesInstitution represented in published CA II literature
Cochin, India
hospital
Sher-i-Kashmir Institute of Medical Sciences (SKIMS)Institution represented in published CA II literature
Srinagar, India
hospital
Children's University Hospital, DublinInstitution represented in published CA II literature
Dublin, Ireland
hospital
University Hospital LimerickInstitution represented in published CA II literature
Limerick, Ireland
hospital
University of Bologna / S. Orsola-Malpighi HospitalInstitution represented in published CA II literature
Bologna, Italy
university
Montefiore Medical CenterInstitution represented in published CA II literature
Bronx, USA
hospital
Juntendo University School of MedicineInstitution represented in published CA II literature
Tokyo, Japan
university

Content published by CA II Community is for awareness and education only. It is not a medical diagnosis, a treatment recommendation, or a substitute for advice from a physician or other qualified health professional.