Mutations in
Genetic linkage study
Genetic markers
Journal
Human genome variation
ISSN: 2054-345X
Titre abrégé: Hum Genome Var
Pays: England
ID NLM: 101652445
Informations de publication
Date de publication:
2020
2020
Historique:
received:
05
12
2019
revised:
11
03
2020
accepted:
15
03
2020
entrez:
16
5
2020
pubmed:
16
5
2020
medline:
16
5
2020
Statut:
epublish
Résumé
This study was conducted to identify the genetic basis of retinal dystrophies in consanguineous Pakistani families. We recruited two families with retinitis pigmentosa (RP) displaying visual difficulties, including nyctalopia and constricted visual fields. Linkage analysis and Sanger sequencing resulted in the identification of a previously reported nonsense mutation, c.847C > T, in exon 5 of
Identifiants
pubmed: 32411380
doi: 10.1038/s41439-020-0100-8
pii: 100
pmc: PMC7217820
doi:
Types de publication
Journal Article
Langues
eng
Pagination
14Informations de copyright
© The Author(s) 2020.
Déclaration de conflit d'intérêts
Conflict of InterestThe authors declare that they have no conflicts of interest.
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