Comprehensive clinical, biochemical and genetic screening reveals four distinct
GBA
Gaucher disease
Genotype-phenotype correlation
Journal
Molecular genetics and metabolism reports
ISSN: 2214-4269
Titre abrégé: Mol Genet Metab Rep
Pays: United States
ID NLM: 101624422
Informations de publication
Date de publication:
Dec 2019
Dec 2019
Historique:
received:
24
07
2019
revised:
07
10
2019
accepted:
08
10
2019
entrez:
12
11
2019
pubmed:
12
11
2019
medline:
12
11
2019
Statut:
epublish
Résumé
Gaucher disease (GD) is a lysosomal storage disorder that is associated with bi-allelic pathogenic variants in
Identifiants
pubmed: 31709146
doi: 10.1016/j.ymgmr.2019.100532
pii: S2214-4269(19)30117-X
pii: 100532
pmc: PMC6831897
doi:
Types de publication
Journal Article
Langues
eng
Pagination
100532Informations de copyright
© 2019 The Authors.
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