Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis (Q24534622)

5 July 2017

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Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis (English)

1 reference

erythrokeratodermia variabilis

5 July 2017

main subject

1 reference

Macari F

1 reference

5 July 2017

Landau M

1 reference

5 July 2017

Cousin P

1 reference

5 July 2017

Mevorah B

1 reference

5 July 2017

Brenner S

1 reference

5 July 2017

Panizzon R

1 reference

5 July 2017

Schorderet DF

1 reference

5 July 2017

Hohl D

1 reference

5 July 2017

Huber M

1 reference

5 July 2017

language of work or name

English

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publication date

3 October 2000

1 reference

American Journal of Human Genetics

5 July 2017

published in

1 reference

5 July 2017

1 reference

5 July 2017

1 reference

5 July 2017

page(s)

1296-1301

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Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis

5 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288569

A comprehensive genetic map of the human genome based on 5,264 microsatellites

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288569

Strategies for multilocus linkage analysis in humans

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288569

The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288569

Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilis

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288569

Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288569

Human connexin 37 is polymorphic but not mutated in tumours

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288569

Connexin gene mutations in human genetic diseases.

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288569

Genetic diseases and gene knockouts reveal diverse connexin functions.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288569

Connexins, connexons, and intercellular communication

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288569

Structure of gap junction intercellular channels

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288569

Rat connexins 30.3 and 31 are expressed in the kidney

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288569

The structure of ion channels in membranes of excitable cells

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288569

Gap junctions: new tools, new answers, new questions

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288569

Two gap junction genes, connexin 31.1 and 30.3, are closely linked on mouse chromosome 4 and preferentially expressed in skin

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288569

Erythrokeratodermia variabilis in a Jewish Kurdish family

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288569

Further evidence for localization of the gene of erythrokeratodermia variabilis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288569

Molecular cloning and characterization of a new member of the gap junction gene family, connexin-31

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288569

Chromosomal assignments of mouse connexin genes, coding for gap junctional proteins, by somatic cell hybridization

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288569

Charcot-Marie-Tooth disease with intermediate motor nerve conduction velocities: characterization of 14 Cx32 mutations in 35 families.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288569

Linkage studies in erythrokeratodermias: fine mapping, genetic heterogeneity and analysis of candidate genes.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288569

Erythrokeratodermia variabilis in a Jewish Kurdish family

29 November 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9297%2807%2962957-7

Differential expression of four connexin genes, Cx-26, Cx-30.3, Cx-32, and Cx-43, in the porcine ovarian follicle

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9297%2807%2962957-7

SHORT COMMUNICATION: Human connexin 37 is polymorphic but not mutated in tumours

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9297%2807%2962957-7

Erythrokeratodermia variabilis treated with isotretinoin. A clinical, histologic, and ultrastructural study

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9297%2807%2962957-7

10.1016/S0002-9297(07)62957-7

7 January 2021

Identifiers

DOI

1 reference

release_4yf5vlqel5g4zozvqd2utxtyzu

5 July 2017

Fatcat ID

0 references

OpenCitations bibliographic resource ID

507368

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

5 July 2017

1 reference