Malattia Leventinese: EFEMP1 R345W Variant Is a Hot Spot Mutation, Not a Founder Mutation.

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Serval ID
serval:BIB_4C6A535CC64F
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
UNIL/CHUV
Title
Malattia Leventinese: EFEMP1 R345W Variant Is a Hot Spot Mutation, Not a Founder Mutation.
Journal
Ophthalmology. Retina
Author(s)
Vaclavik V., Tran H.V., Schorderet Md PhD D.F.
ISSN
2468-6530 (Electronic)
ISSN-L
2468-6530
Publication state
Published
Issued date
10/2020
Peer-reviewed
Oui
Volume
4
Number
10
Pages
1023
Language
english
Notes
Publication types: Case Reports ; Journal Article
Publication Status: ppublish
Keywords
Adult, DNA/genetics, DNA Mutational Analysis, Electroretinography, Extracellular Matrix Proteins/genetics, Extracellular Matrix Proteins/metabolism, Female, Fluorescein Angiography/methods, Fundus Oculi, Humans, Mutation, Optic Disk Drusen/congenital, Optic Disk Drusen/diagnosis, Optic Disk Drusen/genetics, Optic Disk Drusen/metabolism, Retina/metabolism, Retina/pathology, Tomography, Optical Coherence/methods
OAI-PMH
oai:serval.unil.ch:BIB_4C6A535CC64F
DOI
10.1016/j.oret.2020.04.015
Pubmed
33019987
Web of science
000664130000014
Create date
09/10/2020 13:00
Last modification date
20/07/2023 5:55
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