(Q57920463)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21989597%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

title

Heterozygous ABCC8 mutations are a cause of MODY (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21989597%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

1 reference

2

1 reference

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14 February 2020

Sian Ellard

8

1 reference

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14 February 2020

author name string

P Bowman

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21989597%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

E L Edghill

3

1 reference

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14 February 2020

A Damhuis

4

1 reference

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14 February 2020

M H Shepherd

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21989597%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

R Paisey

6

1 reference

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14 February 2020

A T Hattersley

7

1 reference

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14 February 2020

publication date

12 October 2011

1 reference

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14 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21989597%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

volume

55

1 reference

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14 February 2020

issue

1

1 reference

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14 February 2020

page(s)

123-127

1 reference

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https://scigraph.springernature.com/pub.10.1007/s00125-011-2319-x

14 February 2020

exact match

0 references

cites work

Hyperinsulinaemic hypoglycaemia.

1 reference

https://api.crossref.org/works/10.1007%2FS00125-011-2319-X

Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00125-011-2319-X

Activating mutations in the ABCC8 gene in neonatal diabetes mellitus

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00125-011-2319-X

Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00125-011-2319-X

Effective treatment with oral sulfonylureas in patients with diabetes due to sulfonylurea receptor 1 (SUR1) mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00125-011-2319-X

A rare mutation in ABCC8/SUR1 leading to altered ATP-sensitive K+ channel activity and beta-cell glucose sensing is associated with type 2 diabetes in adults

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00125-011-2319-X

Mutations in the ABCC8 gene can cause autoantibody-negative insulin-dependent diabetes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00125-011-2319-X

Maturity-onset diabetes of the young (MODY): how many cases are we missing?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00125-011-2319-X

Molecular diagnosis of neonatal diabetes mellitus using next-generation sequencing of the whole exome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00125-011-2319-X

Mutations in ATP-Sensitive K+ Channel Genes Cause Transient Neonatal Diabetes and Permanent Diabetes in Childhood or Adulthood

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21989597

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S00125-011-2319-X

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21989597%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

1 reference