Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness
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Heterogenous Distribution of MTHFR Gene Variants among Mestizos and Diverse Amerindian Groups from MexicoCongenital stationary night blindness and a "Schubert-Bornschein" type electrophysiology in a family with dominant inheritance.A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness.Targeted ablation of the Pde6h gene in mice reveals cross-species differences in cone and rod phototransduction protein isoform inventory.GNAT1 associated with autosomal recessive congenital stationary night blindness.A new mouse model for stationary night blindness with mutant Slc24a1 explains the pathophysiology of the associated human disease.Mutations in GRM6 identified in consanguineous Pakistani families with congenital stationary night blindness.Role of genetic mutations in folate-related enzyme genes on Male Infertility.The prognostic significance of genetic polymorphisms (Methylenetetrahydrofolate Reductase C677T, Methionine Synthase A2756G, Thymidilate Synthase tandem repeat polymorphism) in multimodally treated oesophageal squamous cell carcinomaGenetic Analysis of the Rhodopsin Gene Identifies a Mosaic Dominant Retinitis Pigmentosa Mutation in a Healthy Individual.Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night BlindnessNovel mutations in PDE6B causing human retinitis pigmentosaCell type-specific expression analysis to identify putative cellular mechanisms for neurogenetic disorders.Molecular profiling of complete congenital stationary night blindness: a pilot study on an Indian cohortDisease progression in autosomal dominant cone-rod dystrophy caused by a novel mutation (D100G) in the GUCA1A geneAbdominal aortic aneurysm: a review of the genetic basis.Association between methylenetetrahydrofolate reductase C677T polymorphism and psoriasis: A meta-analysis.Effects of Common Polymorphisms in the MTHFR and ACE Genes on Diabetic Peripheral Neuropathy Progression: a Meta-Analysis.Polymorphisms of 5,10-methylenetetrahydrofolate reductase and risk of gastric cancer in a Chinese population: a case-control study.Methylenetetrahydrofolate reductase polymorphism, plasma homocysteine and age.
P2860
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P2860
Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness
description
1994 nî lūn-bûn
@nan
1994 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
name
Heterozygous missense mutation ...... ant stationary night blindness
@ast
Heterozygous missense mutation ...... ant stationary night blindness
@en
Heterozygous missense mutation ...... ant stationary night blindness
@nl
type
label
Heterozygous missense mutation ...... ant stationary night blindness
@ast
Heterozygous missense mutation ...... ant stationary night blindness
@en
Heterozygous missense mutation ...... ant stationary night blindness
@nl
altLabel
Erratum: Human methylenetetrah ...... ng and mutation identification
@en
prefLabel
Heterozygous missense mutation ...... ant stationary night blindness
@ast
Heterozygous missense mutation ...... ant stationary night blindness
@en
Heterozygous missense mutation ...... ant stationary night blindness
@nl
P2093
P356
P1433
P1476
Erratum: Human methylenetetrah ...... ng and mutation identification
@en
Heterozygous missense mutation ...... ant stationary night blindness
@en
P2093
P2888
P356
10.1038/NG0894-551A
P407
P577
1994-08-01T00:00:00Z
P6179
1036558445