Recessive Mutations in
Journal
Hepatology communications
ISSN: 2471-254X
Titre abrégé: Hepatol Commun
Pays: United States
ID NLM: 101695860
Informations de publication
Date de publication:
Apr 2019
Apr 2019
Historique:
received:
24
10
2018
accepted:
11
01
2019
entrez:
13
4
2019
pubmed:
13
4
2019
medline:
13
4
2019
Statut:
epublish
Résumé
Undiagnosed liver disease remains an unmet medical need in pediatric hepatology, including children with high gamma-glutamyltransferase (GGT) cholestasis. Here, we report whole-exome sequencing of germline DNA from 2 unrelated children, both offspring of consanguineous union, with neonatal cholestasis and high GGT of unclear etiology. Both children had a rare homozygous damaging mutation (p.Arg219* and p.Val204Met) in kinesin family member 12 (
Identifiants
pubmed: 30976738
doi: 10.1002/hep4.1320
pii: HEP41320
pmc: PMC6442693
doi:
Types de publication
Journal Article
Langues
eng
Pagination
471-477Subventions
Organisme : NIDDK NIH HHS
ID : P30 DK034989
Pays : United States
Organisme : NIH HHS
ID : S10 OD018521
Pays : United States
Organisme : NCATS NIH HHS
ID : UL1 TR001863
Pays : United States
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