A novel dominant D109A CRYAB mutation in a family with myofibrillar myopathy affects αB-crystallin structure

Myofibrillar myopathy (MFM) is a group of inherited muscular disorders characterized by myofibrils dissolution and abnormal accumulation of degradation products. So far causative mutations have been identified in nine genes encoding Z-disk proteins, including αB-crystallin (CRYAB), a small heat shoc...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:BBA Clin
Main Authors: Fichna, Jakub P., Potulska-Chromik, Anna, Miszta, Przemysław, Redowicz, Maria Jolanta, Kaminska, Anna M., Zekanowski, Cezary, Filipek, Sławomir
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2016
Assuntos:
Regular Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5124346/
https://ncbi.nlm.nih.gov/pubmed/27904835
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bbacli.2016.11.004
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados