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GATA6 haploinsufficiency causes pancreatic agenesis in humans

GATA6 haploinsufficiency causes pancreatic agenesis in humans

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_swepub_primary_oai_gup_ub_gu_se_160295

GATA6 haploinsufficiency causes pancreatic agenesis in humans

About this item

Full title

GATA6 haploinsufficiency causes pancreatic agenesis in humans

Publisher

New York: Nature Publishing Group US

Journal title

Nature genetics, 2012-01, Vol.44 (1), p.20-22

Language

English

Formats

Publication information

Publisher

New York: Nature Publishing Group US

More information

Scope and Contents

Contents

Andrew Hattersley and colleagues report an exome sequencing study that identifies
de novo
heterozygous inactivating mutations in
GATA6
as a common cause of pancreatic agenesis. This suggests an essential function for
GATA6
in human pancreas development.
Understanding the regulation of pancreatic development is key for efforts t...

Alternative Titles

Full title

GATA6 haploinsufficiency causes pancreatic agenesis in humans

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_swepub_primary_oai_gup_ub_gu_se_160295

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_swepub_primary_oai_gup_ub_gu_se_160295

Other Identifiers

ISSN

1061-4036,1546-1718

E-ISSN

1546-1718

DOI

10.1038/ng.1035