A carregar...
Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.
Fabry disease, an X-linked inborn error of glycosphingolipid catabolism, results from mutations in the alpha-galactosidase A (alpha-Gal A) gene at Xq22.1. To determine the nature and frequency of the molecular lesions causing the classical and milder-variant Fabry phenotypes, and for precise carrier...
Na minha lista:
| Main Authors: | , , , , |
|---|---|
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
1993
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1682507/ https://ncbi.nlm.nih.gov/pubmed/7504405 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|