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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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:J Inherit Metab Dis
Prif Awduron: Wortmann, Saskia B., Koolen, David A., Smeitink, Jan A., van den Heuvel, Lambert, Rodenburg, Richard J.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Springer Netherlands 2015
Pynciau:
Mynediad Ar-lein: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
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