Novel Missense Mutations in
Adolescent
Adult
Bestrophins
/ genetics
Child
DNA Mutational Analysis
Electrooculography
Electroretinography
Eye Diseases, Hereditary
/ diagnostic imaging
Fluorescein Angiography
Homozygote
Humans
Male
Middle Aged
Mutation, Missense
/ genetics
Pedigree
Phenotype
Retinal Diseases
/ diagnostic imaging
Tomography, Optical Coherence
Vitelliform Macular Dystrophy
/ diagnostic imaging
Young Adult
BEST1
Sanger sequencing
autosomal recessive bestrophinopathy
mutations
single vitelliform lesion
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
18 02 2019
18 02 2019
Historique:
received:
10
01
2019
revised:
07
02
2019
accepted:
07
02
2019
entrez:
21
2
2019
pubmed:
20
2
2019
medline:
20
2
2019
Statut:
epublish
Résumé
To identify
Identifiants
pubmed: 30781664
pii: genes10020151
doi: 10.3390/genes10020151
pmc: PMC6409913
pii:
doi:
Substances chimiques
BEST1 protein, human
0
Bestrophins
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Références
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