|
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
|
|
0.820 |
GeneticVariation
|
BEFREE |
We have shown that the two novel combinations of compound heterozygous mutations p.R141H/p.M325T and p.R141H/p.I201T in the BEST1 gene can also lead to the ARB phenotype.
|
26333019 |
2016 |
|
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
|
|
0.820 |
GeneticVariation
|
UNIPROT |
A Novel BEST1 Mutation in Autosomal Recessive Bestrophinopathy.
|
26720466 |
2015 |
|
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
|
|
0.820 |
GeneticVariation
|
BEFREE |
The combination of Best1 and Best1 R141H does not cause disease, while Best1 R141H together with Best1 I366fsX18 causes ARB.
|
26200502 |
2015 |
|
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
|
|
0.820 |
GeneticVariation
|
UNIPROT |
The combination of Best1 and Best1 R141H does not cause disease, while Best1 R141H together with Best1 I366fsX18 causes ARB.
|
26200502 |
2015 |
|
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies).
|
22234150 |
2012 |
|
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy.
|
21330666 |
2011 |
|
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa.
|
19853238 |
2009 |
|
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Biallelic mutation of BEST1 causes a distinct retinopathy in humans.
|
18179881 |
2008 |
|
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
|
|
0.820 |
CausalMutation
|
CLINVAR |
|
|
|
|
Vitelliform Macular Dystrophy
|
|
0.810 |
GeneticVariation
|
BEFREE |
Two siblings with homozygous Arg141His mutation developed symptoms of typical Best vitelliform dystrophy while their parents had clinical features of mild maculopathy.
|
21809908 |
2012 |
|
Vitelliform Macular Dystrophy
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy.
|
21330666 |
2011 |
|
Vitelliform Macular Dystrophy
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Clinical and molecular genetic analysis of best vitelliform macular dystrophy.
|
19357557 |
2009 |
|
Vitelliform Macular Dystrophy
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Bestrophin Cl- channels are highly permeable to HCO3-.
|
18400985 |
2008 |
|
Vitelliform Macular Dystrophy
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Mutation analysis of the VMD2 gene in thai families with best macular dystrophy.
|
18766995 |
2008 |
|
Vitelliform Macular Dystrophy
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Gene Symbol: VMD2. Disease: Best vitelliform macular dystrophy (VMD2).
|
15176385 |
2004 |
|
Vitelliform Macular Dystrophy
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Ten novel mutations in VMD2 associated with Best macular dystrophy (BMD).
|
14517959 |
2003 |
|
Vitelliform Macular Dystrophy
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Phenotype and genotype correlations in two best families.
|
13129869 |
2003 |
|
Vitelliform Macular Dystrophy
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Identification of a novel VMD2 mutation in Japanese patients with Best disease.
|
12187431 |
2002 |
|
Vitelliform Macular Dystrophy
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Use of denaturing HPLC and automated sequencing to screen the VMD2 gene for mutations associated with Best's vitelliform macular dystrophy.
|
12324875 |
2002 |
|
Vitelliform Macular Dystrophy
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Best's vitelliform macular dystrophy caused by a new mutation (Val89Ala) in the VMD2 gene.
|
11449320 |
2001 |
|
Vitelliform Macular Dystrophy
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophy.
|
11241846 |
2001 |
|
Vitelliform Macular Dystrophy
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Allelic variation in the VMD2 gene in best disease and age-related macular degeneration.
|
10798642 |
2000 |
|
Vitelliform Macular Dystrophy
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A novel spontaneous missense mutation in VMD2 gene is a cause of a best macular dystrophy sporadic case.
|
10682987 |
2000 |
|
Vitelliform Macular Dystrophy
|
|
0.810 |
GeneticVariation
|
UNIPROT |
The mutation spectrum of the bestrophin protein--functional implications.
|
10394929 |
1999 |
|
Vitelliform Macular Dystrophy
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Evaluation of the Best disease gene in patients with age-related macular degeneration and other maculopathies.
|
10453731 |
1999 |