Caricamento...
Type 2 Gaucher Disease in an Infant Despite a Normal Maternal Glucocerebrosidase gene
Gaucher disease (GD) is a recessively inherited autosomal lysosomal storage disease, the most severe of which is type 2, an acute neuronopathic form. We report an affected infant who inherited one mutant allele, Arg257Gln (c.887G>A; p.Arg296Gln) from his father, while the second, Gly202Arg (c.721...
Salvato in:
| Pubblicato in: | Am J Med Genet A |
|---|---|
| Autori principali: | , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
2017
|
| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5787391/ https://ncbi.nlm.nih.gov/pubmed/29091352 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.38487 |
| Tags: |
Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !
|