A carregar...
Multiple phenotypic domains of Fabry disease and their relevance for establishing genotype– phenotype correlations
Fabry disease (FD) is a rare X-linked glycosphingolipidosis resulting from deficient α-galactosidase A (AGAL) activity, caused by pathogenic mutations in the GLA gene. In males, the multisystemic involvement and the severity of tissue injury are critically dependent on the level of AGAL residual enz...
Na minha lista:
| Publicado no: | Appl Clin Genet |
|---|---|
| Main Authors: | , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Dove Medical Press
2019
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6407513/ https://ncbi.nlm.nih.gov/pubmed/30881085 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2147/TACG.S146022 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|