p.Gln200Glu, a putative constitutively active mutant of rod alpha-transducin (GNAT1) in autosomal dominant congenital stationary night blindness
about
Differential gene expression of TRPM1, the potential cause of congenital stationary night blindness and coat spotting patterns (LP) in the Appaloosa horse (Equus caballus)A Naturally Occurring Canine Model of Autosomal Recessive Congenital Stationary Night BlindnessAutoimmune retinopathy.RETINOBASE: a web database, data mining and analysis platform for gene expression data on retinaExpressed sequence tag analysis of guinea pig (Cavia porcellus) eye tissues for NEIBank.An integrated transcriptome-wide analysis of cave and surface dwelling Astyanax mexicanus.A truncated form of rod photoreceptor PDE6 β-subunit causes autosomal dominant congenital stationary night blindness by interfering with the inhibitory activity of the γ-subunit.A 3.1-Mb microdeletion of 3p21.31 associated with cortical blindness, cleft lip, CNS abnormalities, and developmental delay.GNAT1 associated with autosomal recessive congenital stationary night blindness.Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy.A novel homozygous truncating GNAT1 mutation implicated in retinal degeneration.Next-generation sequencing confirms the implication of SLC24A1 in autosomal-recessive congenital stationary night blindness.A Novel Heterozygous Missense Mutation in GNAT1 Leads to Autosomal Dominant Riggs Type of Congenital Stationary Night Blindness.
P2860
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P2860
p.Gln200Glu, a putative constitutively active mutant of rod alpha-transducin (GNAT1) in autosomal dominant congenital stationary night blindness
description
2007 nî lūn-bûn
@nan
2007 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
p.Gln200Glu, a putative consti ...... tal stationary night blindness
@ast
p.Gln200Glu, a putative consti ...... tal stationary night blindness
@en
p.Gln200Glu, a putative consti ...... tal stationary night blindness
@en-gb
p.Gln200Glu, a putative consti ...... tal stationary night blindness
@nl
type
label
p.Gln200Glu, a putative consti ...... tal stationary night blindness
@ast
p.Gln200Glu, a putative consti ...... tal stationary night blindness
@en
p.Gln200Glu, a putative consti ...... tal stationary night blindness
@en-gb
p.Gln200Glu, a putative consti ...... tal stationary night blindness
@nl
prefLabel
p.Gln200Glu, a putative consti ...... tal stationary night blindness
@ast
p.Gln200Glu, a putative consti ...... tal stationary night blindness
@en
p.Gln200Glu, a putative consti ...... tal stationary night blindness
@en-gb
p.Gln200Glu, a putative consti ...... tal stationary night blindness
@nl
P2093
P921
P356
P1433
P1476
p.Gln200Glu, a putative consti ...... tal stationary night blindness
@en
P2093
Andreas Gal
Hans-Jürgen Kreienkamp
Thomas Rosenberg
Viktoria Szabo
P356
10.1002/HUMU.9499
P407
P577
2007-07-01T00:00:00Z