Carregant...

New allelic variant of autosomal recessive hereditary motor and sensory neuropathy type 2S resulted from mutations in gene IGHMBP2

Hereditary motor and sensory neuropathy (HMSN, Charcot–Marie–Tooth disease) is a group of genetically heterogeneous disorders with more than 80 genes linked to different phenotypes, including IGHMBP2 gene responsible for HMSN type 2S (OMIM 616155). Until recently, mutations in IGHMBP2 were exclusive...

Descripció completa

Guardat en:
Dades bibliogràfiques
Autors principals: E. L. Dadali, I. V. Sharkova, S. S. Nikitin, F. A. Konovalov
Format: Artigo
Idioma:Russo
Publicat: ABV-press 2016-07-01
Col·lecció:Nervno-Myšečnye Bolezni
Matèries:
Accés en línia:https://nmb.abvpress.ru/jour/article/view/155
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!