(Q28287854)

2

0 references

Warren Emmett

3

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Naushin Waseem

4

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Jacob Raby

5

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DeQuincy Prescott

6

0 references

Anthony T Moore

7

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Shomi S Bhattacharya

European Journal of Human Genetics

8

0 references

language of work or name

English

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publication date

December 2013

0 references

published in

0 references

volume

21

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issue

12

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page(s)

1356-60

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cites work

Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease

1 reference

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

20 March 2017

1 reference

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

20 March 2017

1 reference

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

20 March 2017

1 reference

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Wolfram syndrome 1 (Wfs1) gene expression in the normal mouse visual system

20 March 2017

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p63 mediates an apoptotic response to pharmacological and disease-related ER stress in the developing epidermis

20 March 2017

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Cat-Map: putting cataract on the map

29 September 2017

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Wolfram syndrome and WFS1 gene

29 September 2017

1 reference

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Expression of the diabetes risk gene wolframin (WFS1) in the human retina

29 September 2017

1 reference

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Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene

29 September 2017

1 reference

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Molecular genetic basis of inherited cataract and associated phenotypes

29 September 2017

1 reference

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The genetics of childhood cataract

29 September 2017

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Epidemiology of blindness and eye disease

29 September 2017

1 reference

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Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome.

29 September 2017

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Mutation analysis of the WFS1 gene in seven Danish Wolfram syndrome families; four new mutations identified

29 September 2017

1 reference

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Wolfram syndrome: structural and functional analyses of mutant and wild-type wolframin, the WFS1 gene product.

2 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2013.52

Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2013.52

Primary diagnosis of Wolfram syndrome in an adult patient--case report and description of a novel pathogenic mutation

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23531866

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2013.52

1 reference

842200

842200

1 reference

1 reference

1 reference