Rekurrente ELOVL4 Genmutation verursacht dominante Stargardt-Krankheit in einer Schweizer Familie [Swiss Family with Dominant Stargardt Disease Caused by a Recurrent Mutation in the ELOVL4 Gene]
Détails
ID Serval
serval:BIB_968B2801A145
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Institution
Titre
Rekurrente ELOVL4 Genmutation verursacht dominante Stargardt-Krankheit in einer Schweizer Familie [Swiss Family with Dominant Stargardt Disease Caused by a Recurrent Mutation in the ELOVL4 Gene]
Périodique
Klinische Monatsblatter fur Augenheilkunde
ISSN
1439-3999 (Electronic)
ISSN-L
0023-2165
Statut éditorial
Publié
Date de publication
04/2016
Peer-reviewed
Oui
Volume
233
Numéro
4
Pages
475-477
Langue
anglais
Notes
Publication types: Case Reports ; Journal Article
Publication Status: ppublish
Publication Status: ppublish
Mots-clé
Diagnosis, Differential, Eye Proteins/genetics, Female, Genes, Dominant, Genetic Markers/genetics, Genetic Predisposition to Disease/genetics, Humans, Macular Degeneration/congenital, Macular Degeneration/diagnosis, Macular Degeneration/genetics, Macular Degeneration/pathology, Male, Membrane Proteins/genetics, Mutation/genetics, Switzerland, Young Adult
Pubmed
Web of science
Création de la notice
10/05/2016 17:33
Dernière modification de la notice
20/08/2019 14:58
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