(Q55670953)

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WFS1 mutations in Spanish patients with diabetes mellitus and deafness

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WFS1 mutations in Spanish patients with diabetes mellitus and deafness (English)

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main subject

Diabetes mellitus and deafness

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Enric Domènech

1

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Montse Gómez-Zaera

series ordinal

2

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Virginia Nunes

series ordinal

3

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language of work or name

English

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publication date

July 2002

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published in

European Journal of Human Genetics

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volume

10

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issue

7

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page(s)

421-6

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exact match

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5200823

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cites work

Wolfram (DIDMOAD) syndrome.

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reference URL

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200823

retrieved

21 January 2018

Predisposition of Wolfram syndrome heterozygotes to psychiatric illness.

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reference URL

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200823

retrieved

21 January 2018

WFS1/wolframin mutations, Wolfram syndrome, and associated diseases

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Crossref

reference URL

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200823

retrieved

21 January 2018

Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4

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reference URL

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200823

retrieved

21 January 2018

A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome)

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Crossref

reference URL

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200823

retrieved

21 January 2018

Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein

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Crossref

reference URL

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200823

retrieved

21 January 2018

WFS1 (Wolfram syndrome 1) gene product: predominant subcellular localization to endoplasmic reticulum in cultured cells and neuronal expression in rat brain

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Crossref

reference URL

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200823

retrieved

21 January 2018

Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4q

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reference URL

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200823

retrieved

21 January 2018

Bleeding tendency in Wolfram syndrome: a newly identified feature with phenotype genotype correlation

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reference URL

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200823

retrieved

21 January 2018

Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1

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reference URL

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200823

retrieved

21 January 2018

Missense variations of the gene responsible for Wolfram syndrome (WFS1/wolframin) in Japanese: possible contribution of the Arg456His mutation to type 1 diabetes as a nonautoimmune genetic basis

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reference URL

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200823

retrieved

21 January 2018

Evidence of an increased risk of hearing loss in heterozygous carriers in a Wolfram syndrome family.

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reference URL

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200823

retrieved

21 January 2018

Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss

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Crossref

reference URL

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200823

retrieved

21 January 2018

Identifiers

DOI

10.1038/SJ.EJHG.5200823

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Dimensions Publication ID

1045221630

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PubMed ID

12107816

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ResearchGate publication ID

11270317

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(Q55670953)

WFS1 mutations in Spanish patients with diabetes mellitus and deafness

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