Molecular evidence for non-penetrance in Best's disease.

Molecular evidence for non-penetrance in Best's disease.

Item
http://www.wikidata.org/entity/Q42071308
VMD2 mutations in vitelliform macular dystrophy (Best disease) and other maculopathiesFunctional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene.Lack of evidence for genetic heterogeneity in Best vitelliform macular dystrophyEvidence for genetic heterogeneity in Best's vitelliform macular dystrophy.Phenotypic variability in a French family with a novel mutation in the BEST1 gene causing multifocal best vitelliform macular dystrophy.Best's macular dystrophy in Australia: phenotypic profile and identification of novel BEST1 mutations.The genetics of inherited macular dystrophies.High-resolution meiotic and physical mapping of the best vitelliform macular dystrophy (VMD2) locus to pericentromeric chromosome 11.Unilateral BEST1-Associated Retinopathy.Next generation sequencing identifies novel disease-associated BEST1 mutations in Bestrophinopathy patients.
P2860

Molecular evidence for non-penetrance in Best's disease.

Item
http://www.wikidata.org/entity/Q42071308
description
1994 nî lūn-bûn
@nan
1994年の論文
@ja
1994年学术文章
@wuu
1994年学术文章
@zh-cn
1994年学术文章
@zh-hans
1994年学术文章
@zh-my
1994年学术文章
@zh-sg
1994年學術文章
@yue
1994年學術文章
@zh
1994年學術文章
@zh-hant
name
Molecular evidence for non-penetrance in Best's disease.
@en
Molecular evidence for non-penetrance in Best's disease.
@nl
type
label
Molecular evidence for non-penetrance in Best's disease.
@en
Molecular evidence for non-penetrance in Best's disease.
@nl
prefLabel
Molecular evidence for non-penetrance in Best's disease.
@en
Molecular evidence for non-penetrance in Best's disease.
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P932
P356
P1433
P1476
Molecular evidence for non-penetrance in Best's disease
@en
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P932