Novel mutations in the gene for α-subunit of retinal cone cyclic nucleotide-gated channels in a Japanese patient with congenital achromatopsia.
about
Abnormal expression of mRNA, microRNA alteration and aberrant DNA methylation patterns in rectal adenocarcinomaLong-term retinal cone rescue using a capsid mutant AAV8 vector in a mouse model of CNGA3-achromatopsia.CNGB3 mutations cause severe rod dysfunction.Prescreening whole exome sequencing results from patients with retinal degeneration for variants in genes associated with retinal degeneration.In vivo imaging of a cone mosaic in a patient with achromatopsia associated with a GNAT2 variant.
P2860
Novel mutations in the gene for α-subunit of retinal cone cyclic nucleotide-gated channels in a Japanese patient with congenital achromatopsia.
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年学术文章
@wuu
2016年学术文章
@zh
2016年学术文章
@zh-cn
2016年学术文章
@zh-hans
2016年学术文章
@zh-my
2016年学术文章
@zh-sg
2016年學術文章
@yue
2016年學術文章
@zh-hant
name
Novel mutations in the gene fo ...... with congenital achromatopsia.
@en
Novel mutations in the gene fo ...... with congenital achromatopsia.
@nl
type
label
Novel mutations in the gene fo ...... with congenital achromatopsia.
@en
Novel mutations in the gene fo ...... with congenital achromatopsia.
@nl
prefLabel
Novel mutations in the gene fo ...... with congenital achromatopsia.
@en
Novel mutations in the gene fo ...... with congenital achromatopsia.
@nl
P2093
P2860
P1476
Novel mutations in the gene fo ...... with congenital achromatopsia.
@en
P2093
Akira Nakao
Futoshi Toyoda
Hiroyuki Sakuramoto
Hisao Ueyama
Kazuki Kuniyoshi
Kazushige Tsunoda
Masahito Ohji
Motohiro Irifune
Sanae Muraki-Oda
Shuji Yamamoto
P2860
P2888
P304
P356
10.1007/S10384-016-0424-6
P577
2016-02-05T00:00:00Z