A carregar...
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...
Na minha lista:
| Main Authors: | , , , , , , |
|---|---|
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2014
|
| Assuntos: | |
| Acesso em linha: | 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 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|