Exome sequencing confirms ZNF408 mutations as a cause of familial retinitis pigmentosa.

Détails

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ID Serval
serval:BIB_37F3A5A224DE
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
UNIL/CHUV
Titre
Exome sequencing confirms ZNF408 mutations as a cause of familial retinitis pigmentosa.
Périodique
Ophthalmic genetics
Auteur⸱e⸱s
Habibi I., Chebil A., Kort F., Schorderet D.F., El Matri L.
ISSN
1744-5094 (Electronic)
ISSN-L
1381-6810
Statut éditorial
Publié
Date de publication
2017
Peer-reviewed
Oui
Volume
38
Numéro
5
Pages
494-497
Langue
anglais
Notes
Publication types: Letter ; Research Support, Non-U.S. Gov't
Publication Status: ppublish
Mots-clé
Adult, Cataract/genetics, Consanguinity, DNA Mutational Analysis, DNA-Binding Proteins/genetics, Eye Diseases/genetics, Female, High-Throughput Nucleotide Sequencing, Humans, Male, Middle Aged, Mutation, Myopia, Degenerative/genetics, Pedigree, Retinitis Pigmentosa/diagnosis, Retinitis Pigmentosa/genetics, Transcription Factors/genetics, Vitreous Body/pathology, Whole Exome Sequencing
OAI-PMH
oai:serval.unil.ch:BIB_37F3A5A224DE
DOI
10.1080/13816810.2016.1275020
Pubmed
28095122
Web of science
000415965700017
Création de la notice
24/01/2017 19:01
Dernière modification de la notice
20/08/2019 14:26
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