Whole exome sequencing identifies rare biallelic ALMS1 missense and stop gain mutations in familial Alström syndrome patients

Whole exome sequencing identifies rare biallelic ALMS1 missense and stop gain mutations in familial Alström syndrome patients

Alström syndrome (AS, OMIM ID 203800) is a rare childhood multiorgan disorder, which is widely studied in non-Arab ethnic patients. The clinical and molecular basis of AS and the mode of disease inheritance in consanguineous Arab populations is not well investigated. Therefore, to identify the molec...

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Bibliographic Details
Main Authors: Naglaa M. Kamal, Ahmed N. Sahly, Babajan Banaganapalli, Omran M. Rashidi, Preetha J. Shetty, Jumana Y. Al-Aama, Noor A. Shaik, Ramu Elango, Omar I. Saadah
Format: Article
Language:English
Published: Elsevier 2020-01-01
Series:Saudi Journal of Biological Sciences
Online Access:http://www.sciencedirect.com/science/article/pii/S1319562X19301688

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http://www.sciencedirect.com/science/article/pii/S1319562X19301688

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