Caricamento...

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...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Pubblicato in:J Inherit Metab Dis
Autori principali: Wortmann, Saskia B., Koolen, David A., Smeitink, Jan A., van den Heuvel, Lambert, Rodenburg, Richard J.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Springer Netherlands 2015
Soggetti:
Accesso online: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: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !