Next generation sequencing with copy number variant detection expands the phenotypic spectrum of HSD17B4-deficiency

BACKGROUND: D-bifunctional protein deficiency, caused by recessive mutations in HSD17B4, is a severe, infantile-onset disorder of peroxisomal fatty acid oxidation. Few affected patients survive past two years of age. Compound heterozygous mutations in HSD17B4 have also been reported in two sisters d...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Lieber, Daniel S, Hershman, Steven G, Slate, Nancy G, Calvo, Sarah E, Sims, Katherine B, Schmahmann, Jeremy D, Mootha, Vamsi K
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BioMed Central 2014
Pynciau:
Case Report
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4015298/
https://ncbi.nlm.nih.gov/pubmed/24602372
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-15-30
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