(Q48000434)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9618177%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

title

Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy (English)

1 reference

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12 November 2019

3

1 reference

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12 November 2019

Isabelle Perrault

4

1 reference

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12 November 2019

Ruey-Bing Yang

6

1 reference

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12 November 2019

author name string

R E Kelsell

1

1 reference

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12 November 2019

K Gregory-Evans

2

1 reference

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12 November 2019

J Kaplan

5

1 reference

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12 November 2019

D L Garbers

7

1 reference

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12 November 2019

A C Bird

8

1 reference

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12 November 2019

A T Moore

9

1 reference

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12 November 2019

D M Hunt

10

1 reference

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12 November 2019

publication date

1 July 1998

1 reference

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12 November 2019

published in

Human Molecular Genetics

1 reference

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12 November 2019

volume

7

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12 November 2019

issue

7

1 reference

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12 November 2019

page(s)

1179-1184

1 reference

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Genetic linkage of cone-rod retinal dystrophy to chromosome 19q and evidence for segregation distortion

12 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.7.1179

RDS/peripherin gene mutations are frequent causes of central retinal dystrophies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.7.1179

Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.7.1179

Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.7.1179

Human retinal guanylate cyclase (GUC2D) maps to chromosome 17p13.1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.7.1179

Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.7.1179

Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.7.1179

Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.7.1179

A point mutation in the RDS-peripherin gene in a Spanish family with central areolar choroidal dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.7.1179

A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.7.1179

Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.7.1179

Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.7.1179

Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.7.1179

Chromosomal localization and genomic organization of genes encoding guanylyl cyclase receptors expressed in olfactory sensory neurons and retina.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.7.1179

Molecular mechanism of visual transduction

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.7.1179

Turned on by Ca2+! The physiology and pathology of Ca(2+)-binding proteins in the retina

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.7.1179

Two membrane forms of guanylyl cyclase found in the eye

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.7.1179

Dominant negative mutations of the guanylyl cyclase-A receptor. Extracellular domain deletion and catalytic domain point mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.7.1179

Two eye guanylyl cyclases are expressed in the same photoreceptor cells and form homomers in preference to heteromers

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.7.1179

Cloning and expression of a second photoreceptor-specific membrane retina guanylyl cyclase (RetGC), RetGC-2

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.7.1179

A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.7.1179

Structural and functional characterization of the rod outer segment membrane guanylate cyclase

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.7.1179

A receptor guanylyl cyclase expressed specifically in olfactory sensory neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.7.1179

Phenotypic Variation Including Retinitis Pigmentosa, Pattern Dystrophy, and Fundus Flavimaculatus in a Single Family With a Deletion of Codon 153 or 154 of the Peripherin/RDS Gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.7.1179

21 January 2018

Identifiers

DOI

10.1093/HMG/7.7.1179

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9618177%20AND%20SRC:MED&resulttype=core&format=json

release_6xttvdcx2necnnokm3cipop32q

12 November 2019

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/6xttvdcx2necnnokm3cipop32q

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference