A Middle Eastern Founder Mutation Expands the Genotypic and Phenotypic Spectrum of Mitochondrial MICU1 Deficiency: A Report of 13 Patients.
Arabs
Creatine kinase
Learning disability
Liver transaminases
MICU1
Mitochondrial disorders
Journal
JIMD reports
ISSN: 2192-8304
Titre abrégé: JIMD Rep
Pays: United States
ID NLM: 101568557
Informations de publication
Date de publication:
2019
2019
Historique:
received:
05
09
2017
accepted:
29
03
2018
revised:
27
03
2018
pubmed:
4
5
2018
medline:
4
5
2018
entrez:
4
5
2018
Statut:
ppublish
Résumé
MICU1 encodes a Ca
Identifiants
pubmed: 29721912
doi: 10.1007/8904_2018_107
pmc: PMC6323007
doi:
Types de publication
Journal Article
Langues
eng
Pagination
79-83Références
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