Identification of GUCY2D gene mutations in CORD5 families and evidence of incomplete penetrance.

Identification of GUCY2D gene mutations in CORD5 families and evidence of incomplete penetrance.

Item
http://www.wikidata.org/entity/Q44293290
Cone-rod dystrophy and a frameshift mutation in the PROM1 geneFunctional annotation and identification of candidate disease genes by computational analysis of normal tissue gene expression data.Prediction of human disease genes by human-mouse conserved coexpression analysis.A study of candidate genes for day blindness in the standard wire haired dachshundA detailed study of the phenotype of an autosomal dominant cone-rod dystrophy (CORD7) associated with mutation in the gene for RIM1.A recurrent mutation in GUCY2D associated with autosomal dominant cone dystrophy in a Chinese familyLeber congenital amaurosis: a genetic paradigm.Assessment of hereditary retinal degeneration in the English springer spaniel dog and disease relationship to an RPGRIP1 mutation.A novel GUCY2D mutation in a Chinese family with dominant cone dystrophyMutation analysis identifies GUCY2D as the major gene responsible for autosomal dominant progressive cone degeneration.Mutation analysis at codon 838 of the Guanylate Cyclase 2D gene in Spanish families with autosomal dominant cone, cone-rod, and macular dystrophies.A deletion in nephronophthisis 4 (NPHP4) is associated with recessive cone-rod dystrophy in standard wire-haired dachshund.Ocular phenotype of CORD5, an autosomal dominant retinal dystrophy associated with PITPNM3 p.Q626H mutation.GUCY2D Cone-Rod Dystrophy-6 is a 'Phototransduction Disease' Triggered by Abnormal Calcium Feedback on Retinal Membrane Guanylyl Cyclase 1.The R838S Mutation in Retinal Guanylyl Cyclase 1 (RetGC1) Alters Calcium Sensitivity of cGMP Synthesis in the Retina and Causes Blindness in Transgenic Mice.GUCY2D mutations in a Chinese cohort with autosomal dominant cone or cone-rod dystrophies.Mutation in the PYK2-binding domain of PITPNM3 causes autosomal dominant cone dystrophy (CORD5) in two Swedish families
P2860

Identification of GUCY2D gene mutations in CORD5 families and evidence of incomplete penetrance.

Item
http://www.wikidata.org/entity/Q44293290
description
2003 nî lūn-bûn
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2003年の論文
@ja
2003年学术文章
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2003年学术文章
@zh-cn
2003年学术文章
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2003年学术文章
@zh-my
2003年学术文章
@zh-sg
2003年學術文章
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2003年學術文章
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2003年學術文章
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name
Identification of GUCY2D gene ...... ence of incomplete penetrance.
@en
Identification of GUCY2D gene ...... ence of incomplete penetrance.
@nl
type
label
Identification of GUCY2D gene ...... ence of incomplete penetrance.
@en
Identification of GUCY2D gene ...... ence of incomplete penetrance.
@nl
prefLabel
Identification of GUCY2D gene ...... ence of incomplete penetrance.
@en
Identification of GUCY2D gene ...... ence of incomplete penetrance.
@nl
P1433
P1476
P2093
P304
P31
P356
P433
P478
P577
P5875
P698
P356
P1433
P1476
Identification of GUCY2D gene ...... ence of incomplete penetrance.
@en
P2093
P304
P31
P356
P433
P478
P577
P5875
P698