(Q50475186)

14 March 2018

title

An atypical form of erythrokeratodermia variabilis maps to chromosome 7q22. (English)

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14 March 2018

erythrokeratodermia variabilis

main subject

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5

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14 March 2018

Régen Drouin

6

Régen Drouin

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14 March 2018

Andrei Verner

3

Andrei Verner

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14 March 2018

Alexandre Montpetit

2

Alexandre Montpetit

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14 March 2018

Christian A Drouin

7

Christian A Drouin

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14 March 2018

author name string

Thomas G Saba

1

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14 March 2018

Pierre Rioux

4

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14 March 2018

publication date

25 November 2004

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14 March 2018

published in

Human Genetics

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14 March 2018

volume

116

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14 March 2018

issue

3

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14 March 2018

page(s)

167-171

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14 March 2018

https://scigraph.springernature.com/pub.10.1007/s00439-004-1193-8

exact match

0 references

cites work

Molecular interaction of connexin 30.3 and connexin 31 suggests a dominant-negative mechanism associated with erythrokeratodermia variabilis

1 reference

12 December 2020

Gap junctions and the connexin protein family

1 reference

12 December 2020

Peroxisomal disorders

1 reference

12 December 2020

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

1 reference

12 December 2020

Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins

1 reference

12 December 2020

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

1 reference

12 December 2020

Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment

1 reference

12 December 2020

Palmoplantar keratoderma of Sybert

1 reference

12 December 2020

Reticular erythrokeratoderma: a new disorder of cornification

1 reference

12 December 2020

BeadArray technology: enabling an accurate, cost-effective approach to high-throughput genotyping

1 reference

12 December 2020

Clinical approach to inherited peroxisomal disorders: a series of 27 patients

1 reference

12 December 2020

Atypical erythrokeratoderma with deafness, physical retardation and peripheral neuropathy

1 reference

12 December 2020

5' flanking variants of resistin are associated with obesity

1 reference

12 December 2020

Prospects for whole-genome linkage disequilibrium mapping of common disease genes

1 reference

12 December 2020

Congenital myopathy, recurrent secretory diarrhea, bullous eruption of skin, microcephaly, and deafness: a new genetic syndrome?

1 reference

12 December 2020

1 reference

12 December 2020

Successful use of long-term frozen lymphocytes for the establishment of lymphoblastoid cell lines

1 reference

12 December 2020

Connexin29 is uniquely distributed within myelinating glial cells of the central and peripheral nervous systems.

1 reference

12 December 2020

A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 protein

1 reference

12 December 2020

10.1007/S00439-004-1193-8

Identifiers

DOI

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14 March 2018

release_qj5squ7kebca3cnsm6mbiviwli

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/qj5squ7kebca3cnsm6mbiviwli

24 November 2022

mapped directly with Wikidata item

1 reference

14 March 2018