(Q50507309)

14 March 2018

title

Sounding out a novel sulphate transporter. (English)

1 reference

14 March 2018

author name string

Morton CC

series ordinal

1

1 reference

14 March 2018

language of work or name

English

0 references

publication date

1 December 1997

1 reference

14 March 2018

published in

Nature Genetics

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14 March 2018

volume

17

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14 March 2018

issue

4

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14 March 2018

page(s)

370-371

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14 March 2018

Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)

cites work

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-370

An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-370

Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-370

Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-370

Defective myosin VIIA gene responsible for Usher syndrome type 1B

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-370

splotch (Sp2H), a mutation affecting development of the mouse neural tube, shows a deletion within the paired homeodomain of Pax-3

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-370

Mutations at the mouse microphthalmia locus are associated with defects in a gene encoding a novel basic-helix-loop-helix-zipper protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-370

A type VII myosin encoded by the mouse deafness gene shaker-1

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-370

A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-370

A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-370

KCNE1 mutations cause jervell and Lange-Nielsen syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-370

Mutations in the myosin VIIA gene cause non-syndromic recessive deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-370

Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-370

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-370

Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-370

Mutations of the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-370

Genetic epidemiological studies of early-onset deafness in the U.S. school-age population

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-370

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/NG1297-370

1 reference

14 March 2018

1 reference

14 March 2018