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

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 consanguin...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:BMC Med Genomics
Prif Awduron: Kanwal, Sumaira, Choi, Yu JIn, Lim, Si On, Choi, Hee Ji, Park, Jin Hee, Nuzhat, Rana, khan, Aneela, Perveen, Shazia, Choi, Byung-Ok, Chung, Ki Wha
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BioMed Central 2021
Pynciau:
Research Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC8247155/
https://ncbi.nlm.nih.gov/pubmed/34193129
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12920-021-01019-5
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