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

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ID Serval
serval:BIB_C02F7DE0E5F2
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
UNIL/CHUV
Titre
Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophy.
Périodique
Human mutation
Auteur⸱e⸱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
Statut éditorial
Publié
Date de publication
03/2001
Peer-reviewed
Oui
Volume
17
Numéro
3
Pages
235
Langue
anglais
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't
Publication Status: ppublish
Résumé
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.
Mots-clé
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
Oui
Création de la notice
28/01/2008 13:58
Dernière modification de la notice
11/09/2019 6:10
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