(Q28273021)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9618166%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

title

Two frequent missense mutations in Pendred syndrome (English)

1 reference

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12 November 2019

1 reference

16

1 reference

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12 November 2019

Guy Van Camp

18

1 reference

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12 November 2019

author name string

P Van Hauwe

1

1 reference

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12 November 2019

L A Everett

2

1 reference

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12 November 2019

P Coucke

3

1 reference

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12 November 2019

D A Scott

4

1 reference

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12 November 2019

M L Kraft

5

1 reference

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12 November 2019

C Ris-Stalpers

6

1 reference

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12 November 2019

C Bolder

7

1 reference

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12 November 2019

B Otten

8

1 reference

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12 November 2019

J J de Vijlder

9

1 reference

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12 November 2019

N L Dietrich

10

1 reference

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12 November 2019

A Ramesh

11

1 reference

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12 November 2019

S C Srisailapathy

12

1 reference

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12 November 2019

A Parving

13

1 reference

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12 November 2019

C W Cremers

14

1 reference

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12 November 2019

P J Willems

15

1 reference

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12 November 2019

E D Green

17

1 reference

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12 November 2019

language of work or name

English

0 references

publication date

1 July 1998

1 reference

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12 November 2019

published in

Human Molecular Genetics

1 reference

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12 November 2019

volume

7

1 reference

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12 November 2019

page(s)

1099-1104

1 reference

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12 November 2019

issue

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9618166%20AND%20SRC:MED&resulttype=core&format=json

Association of congenital deafness with goitre; the nature of the thyroid defect.

12 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.7.1099

Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.7.1099

Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organification

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.7.1099

The gene for Pendred syndrome is located between D7S501 and D7S692 in a 1.7-cM region on chromosome 7q

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.7.1099

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.7.1099

Positional candidate genes for congenital chloride diarrhea suggested by high-resolution physical mapping in chromosome region 7q31

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.7.1099

The Down regulated in Adenoma (dra) gene encodes an intestine-specific membrane sulfate transport protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.7.1099

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.7.1099

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.7.1099

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.7.1099

21 January 2018

Identifiers

DOI

10.1093/HMG/7.7.1099

2 references

Consolidated OpenCitations Corpus – April 2017

1938096

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9618166%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

1938096

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

2 references

1938096