Caricamento...
Identification of a novel loss-of-function mutation of the GLA gene in a Chinese Han family with Fabry disease
BACKGROUND: Fabry disease is an X-linked recessive lysosomal disorder caused by deficient enzymatic activity of α-galactosidase A (α-Gal A). The insufficient enzymatic activity leads to excessive accumulation of glycosphingolipids, the substrates of the enzyme, in lysosomes in organs and tissues. Mu...
Salvato in:
| Pubblicato in: | BMC Med Genet |
|---|---|
| Autori principali: | , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
BioMed Central
2018
|
| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6307325/ https://ncbi.nlm.nih.gov/pubmed/30587147 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-018-0734-2 |
| Tags: |
Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !
|