A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness.
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STIM1 and SLC24A4 Are Critical for Enamel MaturationA Naturally Occurring Canine Model of Autosomal Recessive Congenital Stationary Night BlindnessBiological Characterization of Gene Response to Insulin-Induced Hypoglycemia in Mouse RetinaHomozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families.Multiple Calcium Export Exchangers and Pumps Are a Prominent Feature of Enamel Organ Cells.The Na+/Ca2+, K+ exchanger NCKX4 is required for efficient cone-mediated visionWhole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindnessTargeted next generation sequencing identifies novel mutations in RP1 as a relatively common cause of autosomal recessive rod-cone dystrophyNext-generation sequencing facilitates quantitative analysis of wild-type and Nrl(-/-) retinal transcriptomes.Investigating the Molecular Basis of Retinal Degeneration in a Familial Cohort of Pakistani Decent by Exome Sequencing.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.Changes in gene expression associated with retinal degeneration in the rd3 mouse.Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night BlindnessSelection of Phototransduction Genes in Homo sapiensMolecular profiling of complete congenital stationary night blindness: a pilot study on an Indian cohortThe molecular basis of retinal dystrophies in pakistan.Genetic modifiers and oligogenic inheritance.Next-generation sequencing confirms the implication of SLC24A1 in autosomal-recessive congenital stationary night blindness.The mutation p.E113K in the Schiff base counterion of rhodopsin is associated with two distinct retinal phenotypes within the same family.Defective SLC24A1 causes congenital stationary night blindness 1D (CSNB1D)A missense mutation in ASRGL1 is involved in causing autosomal recessive retinal degeneration.Insight into the molecular genetics of myopia.Defective SLC24A1 does not exchange extracellular 4Na+ for cytosolic Ca2+; K+SLC24A1 exchanges 4Na+ for Ca2+; K+A Novel Heterozygous Missense Mutation in GNAT1 Leads to Autosomal Dominant Riggs Type of Congenital Stationary Night Blindness.
P2860
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P2860
A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness.
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2010 nî lūn-bûn
@nan
2010 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2010年の論文
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2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
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A mutation in SLC24A1 implicat ...... al stationary night blindness.
@ast
A mutation in SLC24A1 implicat ...... al stationary night blindness.
@en
A mutation in SLC24A1 implicat ...... al stationary night blindness.
@nl
type
label
A mutation in SLC24A1 implicat ...... al stationary night blindness.
@ast
A mutation in SLC24A1 implicat ...... al stationary night blindness.
@en
A mutation in SLC24A1 implicat ...... al stationary night blindness.
@nl
prefLabel
A mutation in SLC24A1 implicat ...... al stationary night blindness.
@ast
A mutation in SLC24A1 implicat ...... al stationary night blindness.
@en
A mutation in SLC24A1 implicat ...... al stationary night blindness.
@nl
P2093
P2860
P50
P1476
A mutation in SLC24A1 implicat ...... al stationary night blindness.
@en
P2093
Ahmad U Zafar
Amber Shahzadi
Christelle Michiels
Idrees A Nasir
J Fielding Hejtmancik
Marie-Elise Lancelot
Paul A Sieving
Radha Ayyagari
S Amer Riazuddin
Shaheen N Khan
P2860
P304
P356
10.1016/J.AJHG.2010.08.013
P407
P577
2010-09-16T00:00:00Z