Novel homozygous mutations in Pakistani families with Charcot–Marie–Tooth disease

Novel homozygous mutations in Pakistani families with Charcot–Marie–Tooth disease

Abstract Background Charcot–Marie–Tooth disease (CMT) is a group of genetically and clinically heterogeneous peripheral nervous system disorders. Few studies have identified genetic causes of CMT in the Pakistani patients. Methods This study was performed to identify pathogenic mutations in five con...

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Bibliographic Details
Main Authors: Sumaira Kanwal, Yu JIn Choi, Si On Lim, Hee Ji Choi, Jin Hee Park, Rana Nuzhat, Aneela khan, Shazia Perveen, Byung-Ok Choi, Ki Wha Chung
Format: Article
Language:English
Published: BMC 2021-06-01
Series:BMC Medical Genomics
Subjects:
Charcot–Marie–Tooth disease (CMT)
Consanguinity
Homozygosity
Pakistan
Whole exome sequencing
Online Access:https://doi.org/10.1186/s12920-021-01019-5

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