A carregar...
Mechanisms for phenotypic variation in Lesch–Nyhan disease and its variants
Lesch–Nyhan disease is a neurogenetic disorder caused by mutation of the HPRT1 gene on the X chromosome. There is significant variation in the clinical phenotype, with more than 300 different known mutations. There are few studies that have addressed whether similar mutations result in similar pheno...
Na minha lista:
| Main Authors: | , , , , , , , , , |
|---|---|
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2010
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3034646/ https://ncbi.nlm.nih.gov/pubmed/20981450 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-010-0901-9 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|