Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A > G mutation

The m.3243A > G mutation has become known as the MELAS mutation. However, many other clinical phenotypes associated with this mutation have been described, most frequently being maternally inherited diabetes and deafness (MIDD). The m.3243A > G mutation, can be detected in virtually all tissue...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Main Authors: de Laat, Paul, Koene, Saskia, van den Heuvel, Lambert P. W. J., Rodenburg, Richard J. T., Janssen, Mirian C. H., Smeitink, Jan A. M.
Format: Artigo
Sprog:Inglês
Udgivet: Springer Netherlands 2012
Fag:
Original Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3470685/
https://ncbi.nlm.nih.gov/pubmed/22403016
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-012-9465-2
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker