Accurate Molecular Diagnosis of Gaucher Disease Using Clinical Exome Sequencing as a First-Tier Test.
GBA
MLPA
clinical exome sequencing
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
24 May 2021
24 May 2021
Historique:
received:
19
04
2021
revised:
18
05
2021
accepted:
20
05
2021
entrez:
2
6
2021
pubmed:
3
6
2021
medline:
25
6
2021
Statut:
epublish
Résumé
Gaucher disease (GD) is an autosomal recessive lysosomal disorder due to beta-glucosidase gene (
Identifiants
pubmed: 34073924
pii: ijms22115538
doi: 10.3390/ijms22115538
pmc: PMC8197298
pii:
doi:
Substances chimiques
beta-Glucosidase
EC 3.2.1.21
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Déclaration de conflit d'intérêts
The authors declare no conflict of interest.
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