A Novel Frameshift Mutation Associated with Hurler's Syndrome: A Case Report.
alpha-l-iduronidase
lysosomal storage disorder
mucopolysaccharidosis type 1
mutation
Journal
Journal of pediatric genetics
ISSN: 2146-4596
Titre abrégé: J Pediatr Genet
Pays: Germany
ID NLM: 101589859
Informations de publication
Date de publication:
Dec 2019
Dec 2019
Historique:
received:
04
12
2018
accepted:
02
03
2019
entrez:
6
11
2019
pubmed:
7
11
2019
medline:
7
11
2019
Statut:
ppublish
Résumé
Mucopolysaccharidosis 1 (MPS1) is a rare inherited lysosomal storage disorder resulting from the absence or reduction of lysosomal alpha-l-iduronidase due to mutations in the
Identifiants
pubmed: 31687259
doi: 10.1055/s-0039-1685190
pii: 1800056
pmc: PMC6824898
doi:
Types de publication
Case Reports
Langues
eng
Pagination
212-217Informations de copyright
© Thieme Medical Publishers.
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