Mutation analysis at codon 838 of the Guanylate Cyclase 2D gene in Spanish families with autosomal dominant cone, cone-rod, and macular dystrophies.

Mutation analysis at codon 838 of the Guanylate Cyclase 2D gene in Spanish families with autosomal dominant cone, cone-rod, and macular dystrophies.

Item
http://www.wikidata.org/entity/Q41873980
Rapid cohort generation and analysis of disease spectrum of large animal model of cone dystrophyExome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genesWhole exome sequencing reveals GUCY2D as a major gene associated with cone and cone-rod dystrophy in Israel.A recurrent mutation in GUCY2D associated with autosomal dominant cone dystrophy in a Chinese familyA novel GUCY2D mutation in a Chinese family with dominant cone dystrophyTwo siblings with late-onset cone-rod dystrophy and no visible macular degenerationGUCY2D 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.
P2860

Mutation analysis at codon 838 of the Guanylate Cyclase 2D gene in Spanish families with autosomal dominant cone, cone-rod, and macular dystrophies.

Item
http://www.wikidata.org/entity/Q41873980
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
2011年论文
@zh
2011年论文
@zh-cn
name
Mutation analysis at codon 838 ...... -rod, and macular dystrophies.
@en
type
label
Mutation analysis at codon 838 ...... -rod, and macular dystrophies.
@en
prefLabel
Mutation analysis at codon 838 ...... -rod, and macular dystrophies.
@en
P1433
P1476
P2093
P2860
P304
P31
P478
P577
P698
P932
P1433
P1476
Mutation analysis at codon 838 ...... e-rod, and macular dystrophies
@en
P2093
P2860
P304
P31
P478
P577
P698
P932