A homozygous 1–base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese

scientific article published on July 1, 1995

A homozygous 1–base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese is …
instance of (P31):
scholarly articleQ13442814

External links are
P6179Dimensions Publication ID1038347138
P356DOI10.1038/NG0795-360
P953full work available at URLhttp://www.nature.com/articles/ng0795-360
http://www.nature.com/articles/ng0795-360.pdf
P3181OpenCitations bibliographic resource ID435016
P698PubMed publication ID7670478
P5875ResearchGate publication ID15527636

P2093author name stringS. Fuchs
M. Tamai
M. Nakazawa
A. Gal
Y. Oguchi
M. Maw
P2860cites workLight-induced binding of 48-kDa protein to photoreceptor membranes is highly enhanced by phosphorylation of rhodopsinQ70501789
Fluorescence in situ hybridization mapping of 25 markers on distal human chromosome 2q surrounding the human Waardenburg syndrome, type I (WS1) locus (PAX3 gene)Q70694544
Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindnessQ72896189
OGUCHI'S DISEASEQ78316581
Phosphodiesterase activation by photoexcited rhodopsin is quenched when rhodopsin is phosphorylated and binds the intrinsic 48-kDa protein of rod outer segmentsQ24632640
Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosaQ28118750
Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindnessQ28247337
The sequence of human retinal S-antigen reveals similarities with alpha-transducinQ28291784
Oguchi disease: suggestion of linkage to markers on chromosome 2qQ28293710
Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reactionQ29618515
Arrestin function in inactivation of G protein-coupled receptor rhodopsin in vivoQ47072234
Genetic fine localization of the arrestin (S-antigen) gene 4 cM distal from D2S172Q61386399
A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosaQ67482922
The influence of arrestin (48K protein) and rhodopsin kinase on visual transductionQ67485617
Mizuo phenomenon in X-linked retinoschisis. Pathogenesis of the Mizuo phenomenonQ67938471
X-linked recessive cone dystrophy with tapetal-like sheen. A newly recognized entity with Mizuo-Nakamura phenomenonQ68804982
P433issue3
P407language of work or nameEnglishQ1860
P921main subjectsequence deletionQ70689645
homozygosityQ114049690
rhodopsin mediated signaling pathwayQ14859552
S-antigen visual arrestinQ21105252
P304page(s)360-2
P577publication date1995-07-01
P1433published inNature GeneticsQ976454
P1476titleA homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese
A homozygous 1–base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese
P478volume10

Reverse relations

cites work (P2860)
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