Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophy.

Details

Request a copyRequest a copy
Serval ID
serval:BIB_C02F7DE0E5F2
Type
Article: article from journal or magazin.
Collection
Publications
Institution
UNIL/CHUV
Title
Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophy.
Journal
Human mutation
Author(s)
Marchant D., Gogat K., Boutboul S., Péquignot M., Sternberg C., Dureau P., Roche O., Uteza Y., Hache J.C., Puech B., Puech V., Dumur V., Mouillon M., Munier F.L., Schorderet D.F., Marsac C., Dufier J.L., Abitbol M.
ISSN
1098-1004 (Electronic)
ISSN-L
1059-7794
Publication state
Published
Issued date
03/2001
Peer-reviewed
Oui
Volume
17
Number
3
Pages
235
Language
english
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't
Publication Status: ppublish
Abstract
ABSTRACT We report five novel VMD2 mutations in Best's macular dystrophy patients (S16F, I73N, R92H, V235L, and N296S). An SSCP analysis of the VMD2 11 exons revealed electrophoretic mobility shifts exclusively in exons 2, 3, 4, 6 and 8. Direct sequencing indicated that these shifts are caused by mono-allelic transition in exons 2, 4, 6, 8 and transversion in exons 3 and 6. Five novel "silent" polymorphisms are also reported: 213T>C, 323C>A, 1514A>G, 1661C>T, and 1712T>C. Hum Mutat 17:235, 2001.
Keywords
Base Sequence, Bestrophins, Chloride Channels, DNA/chemistry, DNA/genetics, DNA Mutational Analysis, Eye Proteins/genetics, Family Health, Female, Humans, Macular Degeneration/genetics, Macular Degeneration/pathology, Male, Mutation, Mutation, Missense, Pedigree
OAI-PMH
oai:serval.unil.ch:BIB_C02F7DE0E5F2
DOI
10.1002/humu.9
Pubmed
11241846
Open Access
Yes
Create date
28/01/2008 13:58
Last modification date
11/09/2019 6:10
Usage data