Cargando…
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...
| Autores principales: | , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2014
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4015298/ https://www.ncbi.nlm.nih.gov/pubmed/24602372 http://dx.doi.org/10.1186/1471-2350-15-30 |