A carregar...

Whole exome sequencing of suspected mitochondrial patients in clinical practice

Mitochondrial disorders are characterized by a broad clinical spectrum. Identical clinical signs and symptoms can be caused by mutations in different mitochondrial or nuclear genes. Vice versa, the same mutation can lead to different phenotypes. Genetic syndromes and neuromuscular disorders mimickin...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:J Inherit Metab Dis
Main Authors: Wortmann, Saskia B., Koolen, David A., Smeitink, Jan A., van den Heuvel, Lambert, Rodenburg, Richard J.
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Netherlands 2015
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4432107/
https://ncbi.nlm.nih.gov/pubmed/25735936
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-015-9823-y
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!