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Title:

Advancing genomic approaches to the molecular diagnosis of mitochondrial disease.

Document type:
Review; Book Chapter; Journal Article; Research Support, Non-U.S. Gov't; Review
Author(s):
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...     »
Journal title abbreviation:
Essays Biochem
Year:
2018
Journal volume:
62
Journal issue:
3
Pages contribution:
399-408
Fulltext / DOI:
doi:10.1042/EBC20170110
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/29950319
Print-ISSN:
0071-1365
TUM Institution:
Institut für Humangenetik
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