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.
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Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome SequencingMolecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome SequencingNext-generation sequencing confirms the implication of SLC24A1 in autosomal-recessive congenital stationary night blindness.Reduced rod electroretinograms in carrier parents of two Japanese siblings with autosomal recessive retinitis pigmentosa associated with PDE6B gene mutations.A Novel Heterozygous Missense Mutation in GNAT1 Leads to Autosomal Dominant Riggs Type of Congenital Stationary Night Blindness.
P2860
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.
description
2014 nî lūn-bûn
@nan
2014 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2014年の論文
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2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
A truncated form of rod photor ...... ory activity of the γ-subunit.
@ast
A truncated form of rod photor ...... ory activity of the γ-subunit.
@en
type
label
A truncated form of rod photor ...... ory activity of the γ-subunit.
@ast
A truncated form of rod photor ...... ory activity of the γ-subunit.
@en
prefLabel
A truncated form of rod photor ...... ory activity of the γ-subunit.
@ast
A truncated form of rod photor ...... ory activity of the γ-subunit.
@en
P2093
P2860
P921
P1433
P1476
A truncated form of rod photor ...... ory activity of the γ-subunit.
@en
P2093
Anurima Majumder
Audrey Sénéchal
Béatrice Bocquet
Christian P Hamel
Gaël Manes
Pallavi Cheguru
P2860
P304
P356
10.1371/JOURNAL.PONE.0095768
P407
P577
2014-04-23T00:00:00Z