Novel mutations in the CYP4V2 gene associated with Bietti crystalline corneoretinal dystrophy.

Novel mutations in the CYP4V2 gene associated with Bietti crystalline corneoretinal dystrophy.

Item
http://www.wikidata.org/entity/Q34453289
Exome sequencing identifies compound heterozygous mutations in CYP4V2 in a pedigree with retinitis pigmentosa.Ocular cytochrome P450s and transporters: roles in disease and endobiotic and xenobiotic dispositionEvolution of Cellular Inclusions in Bietti's Crystalline DystrophyGeneration and characterization of a murine model of Bietti crystalline dystrophyIdentification of novel CYP4V2 gene mutations in 92 Chinese families with Bietti's crystalline corneoretinal dystrophy.Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy.Finding homes for orphan cytochrome P450s: CYP4V2 and CYP4F22 in disease states.Clinical and molecular findings in three Lebanese families with Bietti crystalline dystrophy: report on a novel mutationCYP4V2 in Bietti's crystalline dystrophy: ocular localization, metabolism of ω-3-polyunsaturated fatty acids, and functional deficit of the p.H331P variantMutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.Identification and population history of CYP4V2 mutations in patients with Bietti crystalline corneoretinal dystrophy.PRPF3-Associated Autosomal Dominant Retinitis Pigmentosa and CYP4V2-Associated Bietti's Crystalline Corneoretinal Dystrophy Coexist in a Multigenerational Chinese Family.Novel CYP4V2 mutations associated with Bietti crystalline corneoretinal dystrophy in Chinese patients.Comprehensive screening of in a cohort of Chinese patients with Bietti crystalline dystrophy
P2860

Novel mutations in the CYP4V2 gene associated with Bietti crystalline corneoretinal dystrophy.

Item
http://www.wikidata.org/entity/Q34453289
description
2005 nî lūn-bûn
@nan
2005 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
Novel mutations in the CYP4V2 ...... lline corneoretinal dystrophy.
@ast
Novel mutations in the CYP4V2 ...... lline corneoretinal dystrophy.
@en
Novel mutations in the CYP4V2 ...... lline corneoretinal dystrophy.
@nl
type
label
Novel mutations in the CYP4V2 ...... lline corneoretinal dystrophy.
@ast
Novel mutations in the CYP4V2 ...... lline corneoretinal dystrophy.
@en
Novel mutations in the CYP4V2 ...... lline corneoretinal dystrophy.
@nl
prefLabel
Novel mutations in the CYP4V2 ...... lline corneoretinal dystrophy.
@ast
Novel mutations in the CYP4V2 ...... lline corneoretinal dystrophy.
@en
Novel mutations in the CYP4V2 ...... lline corneoretinal dystrophy.
@nl
P1433
P1476
P2093
P304
P31
P478
P577
P698
P921
P1433
P1476
Novel mutations in the CYP4V2 ...... lline corneoretinal dystrophy.
@en
P2093
P304
P31
P478
P577
P698
P921