Cargando…
Dataset for a case report of a homozygous PEX16 F332del mutation
This dataset provides a clinical description along with extensive biochemical and molecular characterization of a patient with a homozygous mutation in PEX16 with an atypical phenotype. This patient described in Molecular Genetics and Metabolism Reports was ultimately diagnosed with an atypical pero...
| Autores principales: | , , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2015
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4737951/ https://www.ncbi.nlm.nih.gov/pubmed/26870756 http://dx.doi.org/10.1016/j.dib.2015.12.011 |