A novel spontaneous missense mutation in VMD2 gene is a cause of a best macular dystrophy sporadic case
about
A novel compound heterozygous mutation in the BEST1 gene causes autosomal recessive Best vitelliform macular dystrophy.BEST1 sequence variants in Italian patients with vitelliform macular dystrophyPhenotypic variability due to a novel Glu292Lys variation in exon 8 of the BEST1 gene causing best macular dystrophy.Bestrophin 1--Phenotypes and Functional Aspects in Bestrophinopathies.Identification of a novel VMD2 mutation in Japanese patients with Best disease.
P2860
A novel spontaneous missense mutation in VMD2 gene is a cause of a best macular dystrophy sporadic case
description
2000 nî lūn-bûn
@nan
2000 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
A novel spontaneous missense m ...... acular dystrophy sporadic case
@ast
A novel spontaneous missense m ...... acular dystrophy sporadic case
@en
A novel spontaneous missense m ...... acular dystrophy sporadic case
@nl
type
label
A novel spontaneous missense m ...... acular dystrophy sporadic case
@ast
A novel spontaneous missense m ...... acular dystrophy sporadic case
@en
A novel spontaneous missense m ...... acular dystrophy sporadic case
@nl
prefLabel
A novel spontaneous missense m ...... acular dystrophy sporadic case
@ast
A novel spontaneous missense m ...... acular dystrophy sporadic case
@en
A novel spontaneous missense m ...... acular dystrophy sporadic case
@nl
P2093
P1476
A novel spontaneous missense m ...... acular dystrophy sporadic case
@en
P2093
C O Pierrottet
N Orzalesi
P304
P356
10.1016/S0002-9394(99)00327-X
P407
P577
2000-02-01T00:00:00Z