clinical genetics
metabolic disorders
molecular genetics
neurology
Journal
Journal of medical genetics
ISSN: 1468-6244
Titre abrégé: J Med Genet
Pays: England
ID NLM: 2985087R
Informations de publication
Date de publication:
05 2021
05 2021
Historique:
received:
09
01
2020
revised:
02
04
2020
accepted:
22
04
2020
pubmed:
11
6
2020
medline:
19
1
2022
entrez:
11
6
2020
Statut:
ppublish
Résumé
The nucleotide binding protein-like ( Whole exome sequencing was used to identify patients with compound heterozygous The previously reported c.815-27T>C branch-site mutation was found in all four families. In prior patients, c.166G>A [p.G56R] was always found We report on five new patients with
Sections du résumé
BACKGROUND
The nucleotide binding protein-like (
METHODS
Whole exome sequencing was used to identify patients with compound heterozygous
RESULTS
The previously reported c.815-27T>C branch-site mutation was found in all four families. In prior patients, c.166G>A [p.G56R] was always found
CONCLUSION
We report on five new patients with
Identifiants
pubmed: 32518176
pii: jmedgenet-2020-106846
doi: 10.1136/jmedgenet-2020-106846
doi:
Substances chimiques
Mitochondrial Proteins
0
NUBPL protein, human
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
314-325Subventions
Organisme : Biotechnology and Biological Sciences Research Council
ID : BBS/E/J/000PR9790
Pays : United Kingdom
Informations de copyright
© Author(s) (or their employer(s)) 2021. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: EH and PSE are employees of Population Bio. BRC, SW, RK, ST and EC are employees of Ambry Genetics.