A nonsense mutation in MME gene associates with autosomal recessive late‐onset Charcot–Marie–Tooth disease

A nonsense mutation in MME gene associates with autosomal recessive late‐onset Charcot–Marie–Tooth disease

Abstract Background The genetic cause for the majority of patients with late‐onset axonal form of neuropathies have remained unknown. In this study we aimed to identify the causal mutation in a family with multiple affected individuals manifesting a range of phenotypic features consistent with late‐...

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Detaylı Bibliyografya
Asıl Yazarlar: Zeinab Jamiri, Rana Khosravi, Mohammad Mehdi Heidari, Ebrahim Kiani, Javad Gharechahi
Materyal Türü: Makale
Dil:English
Baskı/Yayın Bilgisi: Wiley 2022-05-01
Seri Bilgileri:Molecular Genetics & Genomic Medicine
Konular:
Charcot–Marie–Tooth disease
membrane metalloendopeptidase
polyneuropathy
Sanger sequencing
whole exome sequencing
Online Erişim:https://doi.org/10.1002/mgg3.1913

Internet

https://doi.org/10.1002/mgg3.1913

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