Mutation analysis at codon 838 of the Guanylate Cyclase 2D gene in Spanish families with autosomal dominant cone, cone-rod, and macular dystrophies.
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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
Q27309443-0AC4D814-EC0E-4F46-8A81-8576C8F75A02Q28533822-BC4A2097-8DB1-4382-BFE2-CCDEBDBCAC6BQ34976923-E87045F2-C375-44A1-8EF9-7AF836C1D2F1Q35629063-4B402422-B484-4773-8B8D-4EA10A21A46AQ36890510-71102205-4ADB-418C-944D-E6E645BF2F6AQ37164602-7E2D0A25-6E92-4263-A150-69886AF3EFBDQ50026113-D4AB1629-BE95-4FA9-95B6-39A9C43635E7Q51431710-CE407B8C-1CEF-4CF7-9DD4-BCEADE44DEFE
P2860
Mutation analysis at codon 838 of the Guanylate Cyclase 2D gene in Spanish families with autosomal dominant cone, cone-rod, and macular dystrophies.
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
P2093
P2860
P1433
P1476
Mutation analysis at codon 838 ...... e-rod, and macular dystrophies
@en
P2093
Almudena Avila-Fernandez
Ascension Gimenez
Berta Almoguera
Blanca Garcia-Sandoval
Carmen Ayuso
Carmen Laura Auz-Alexandre
Carmen Ramos
Diego Cantalapiedra
Fiona Blanco-Kelly
Maria Garcia-Hoyos
P2860
P304
P577
2011-04-29T00:00:00Z