A carregar...
Mutational Spectrum of Smith-Lemli-Opitz Syndrome Patients in Hungary
Smith-Lemli-Opitz (SLO) syndrome is an autosomal recessive disorder characterized by multiple congenital abnormalities and mental retardation. The condition is caused by the deficiency of 7-dehydrocholesterol reductase (DHCR7) which catalyzes the final step in cholesterol biosynthesis. Biochemical d...
Na minha lista:
| Main Authors: | , , , , , , , , , , , |
|---|---|
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
S. Karger AG
2012
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3531926/ https://ncbi.nlm.nih.gov/pubmed/23293579 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000343923 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|