Benutzer: Gast  Login
Titel:

Advancing genomic approaches to the molecular diagnosis of mitochondrial disease.

Dokumenttyp:
Review; Book Chapter; Journal Article; Research Support, Non-U.S. Gov't; Review
Autor(en):
Stenton, Sarah Louise; Prokisch, Holger
Abstract:
Mitochondrial diseases present a diagnostic challenge due to their clinical and genetic heterogeneity. Achieving comprehensive molecular diagnosis via a conventional candidate-gene approach is likely, therefore, to be labour- and cost-intensive given the expanding number of mitochondrial disease genes. The advent of whole exome sequencing (WES) and whole genome sequencing (WGS) hold the potential of higher diagnostic yields due to the universality and unbiased nature of the methods. However, the...     »
Zeitschriftentitel:
Essays Biochem
Jahr:
2018
Band / Volume:
62
Heft / Issue:
3
Seitenangaben Beitrag:
399-408
Volltext / DOI:
doi:10.1042/EBC20170110
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/29950319
Print-ISSN:
0071-1365
TUM Einrichtung:
Institut für Humangenetik
 BibTeX