A Japanese family with cone-rod dystrophy of delayed onset caused by a compound heterozygous combination of novel
Journal
Human genome variation
ISSN: 2054-345X
Titre abrégé: Hum Genome Var
Pays: England
ID NLM: 101652445
Informations de publication
Date de publication:
2019
2019
Historique:
received:
22
09
2018
revised:
22
01
2019
accepted:
23
01
2019
entrez:
18
4
2019
pubmed:
18
4
2019
medline:
18
4
2019
Statut:
epublish
Résumé
We analyzed two siblings in a Japanese family with delayed onset cone-rod dystrophy (CRD) using whole-exome sequencing. A novel frameshift c.1106dup (p.H370Afs*17) variant and a known missense c.2027 T > A (p.I676N) variant in
Identifiants
pubmed: 30992995
doi: 10.1038/s41439-019-0048-8
pii: 48
pmc: PMC6459921
doi:
Types de publication
Journal Article
Langues
eng
Pagination
18Déclaration de conflit d'intérêts
The authors declare that they have no conflict of interest.
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