A novel GUCY2D mutation in a Chinese family with dominant cone dystrophy
about
Whole exome sequencing reveals GUCY2D as a major gene associated with cone and cone-rod dystrophy in Israel.Disease progression in autosomal dominant cone-rod dystrophy caused by a novel mutation (D100G) in the GUCA1A geneRole of the nucleotidyl cyclase helical domain in catalytically active dimer formation.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
A novel GUCY2D mutation in a Chinese family with dominant cone dystrophy
description
2013 nî lūn-bûn
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name
A novel GUCY2D mutation in a Chinese family with dominant cone dystrophy
@en
type
label
A novel GUCY2D mutation in a Chinese family with dominant cone dystrophy
@en
prefLabel
A novel GUCY2D mutation in a Chinese family with dominant cone dystrophy
@en
P2093
P2860
P1433
P1476
A novel GUCY2D mutation in a Chinese family with dominant cone dystrophy
@en
P2093
Changxi Chen
Xiaohui Zhang
Yanfan Ren
P2860
P304
P577
2013-05-21T00:00:00Z