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SIGMAR1 gene mutation causing Distal Hereditary Motor Neuropathy in a Portuguese family

SIGMAR1 gene encodes a non-opioid endoplasmic reticulum (ER) protein which is involved in a large diversity of cell functions and is expressed ubiquitously in both central and peripheral nervous systems. Alterations of its normal function may contribute to two different phenotypes: juvenile amyotrop...

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Библиографические подробности
Опубликовано в: :Acta Myol
Главные авторы: ALMENDRA, LUCIANO, LARANJEIRA, FRANCISCO, FERNÁNDEZ-MARMIESSE, ANA, NEGRÃO, LUÍS
Формат: Artigo
Язык:Inglês
Опубликовано: Pacini Editore srl 2018
Предметы:
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC6060428/
https://ncbi.nlm.nih.gov/pubmed/30079398
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