Further Validation of the SIGMAR1 c.151+1G>T Mutation as Cause of Distal Hereditary Motor Neuropathy

Distal hereditary motor neuropathies represent a group of rare genetic disorders characterized by progressive distal motor weakness without sensory loss. Their genetic heterogeneity is high and thus eligible for diagnostic whole exome sequencing. The authors report successful application of whole ex...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Child Neurol Open
Main Authors: Lee, Jessica J. Y., van Karnebeek, Clara D. M., Drögemoller, Britt, Shyr, Casper, Tarailo-Graovac, Maja, Eydoux, Patrice, Ross, Colin J., Wasserman, Wyeth W., Björnson, Bruce, Wu, John K.
Formato: Artigo
Idioma:Inglês
Publicado em: SAGE Publications 2016
Assuntos:
Brief Communication
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5417346/
https://ncbi.nlm.nih.gov/pubmed/28503617
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/2329048X16669912
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados