MEFV c.2230G>T p.(Ala744Ser) rs61732874 previously misclassified as pathogenic variant due to lack of a population specific database-Reference-Cited by-同舟云学术

MEFV c.2230G>T p.(Ala744Ser) rs61732874 previously misclassified as pathogenic variant due to lack of a population specific database

Published:2020-05-13 Issue:5 Volume:84 Page:370-379
ISSN:0003-4800
Container-title:Annals of Human Genetics
language:en
Short-container-title:Annals of Human Genetics

Author:

Alsubaie Lamia¹²^ORCID,Alkhalaf Randa¹,Aloraini Taghrid³,Amoudi Manal³,Swaid Abdulrahman¹⁴,Al Mutairi Fuad¹⁴,Alfadhel Majid¹⁴²^ORCID,Eyaid1 Wafaa¹⁴,Sewairi Wafaa⁴⁵,Alfares Ahmed¹⁶

Affiliation:

1. Division of Genetics, Department of Pediatrics King Abdulaziz Medical City Riyadh Saudi Arabia

2. King Abdullah International Medical Research Center Riyadh Saudi Arabia

3. Department of Pathology and Laboratory Medicine King Abdulaziz Medical City Riyadh Saudi Arabia

4. King Saud bin Abdulaziz University for Health Sciences King Abdulaziz Medical City Riyadh Saudi Arabia

5. Division of Rheumatology, Department of Pediatrics King Abdulaziz Medical City Riyadh Saudi Arabia

6. Department of Pediatrics, College of Medicine Qassim University Qassim Saudi Arabia

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ahg.12385

Reference24 articles.

1. A Case of Familial Mediterranean Fever with Extensive Lymphadenopathy and Complex Heterozygous Genotype Presenting in the Fourth Decade

2. A study of familial Mediterranean Fever (MEFV) gene mutations in Egyptian children with type 1 diabetes mellitus

3. Complex formation dynamics of native and mutated pyrin's B30.2 domain with caspase-1

4. Familial Mediterranean Fever in the World

5. Exon 2: Is it the good police in Familial Mediterranean Fever?;Bilge Ş. Y.;European Journal of Rheumatology,2019

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