Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis
Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis
About this item
Full title
Author / Creator
Weedon, Michael N , Cebola, Inês , Patch, Ann-Marie , Flanagan, Sarah E , De Franco, Elisa , Caswell, Richard , Rodríguez-Seguí, Santiago A , Shaw-Smith, Charles , Cho, Candy H-H , Allen, Hana Lango , Houghton, Jayne A L , Roth, Christian L , Chen, Rongrong , Hussain, Khalid , Marsh, Phil , Vallier, Ludovic , Murray, Anna , Ellard, Sian , Ferrer, Jorge , Hattersley, Andrew T and International Pancreatic Agenesis Consortium
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
Subjects
More information
Scope and Contents
Contents
Andrew Hattersley, Jorge Ferrer and colleagues use epigenomic annotation of pancreatic progenitor cells to guide the interpretation of whole-genome sequences from individuals with isolated pancreatic agenesis. They show that recessive mutations in a distal developmental enhancer of
PTF1A
cause pancreatic agenesis and abolish enhancer activity...
Alternative Titles
Full title
Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis
Authors, Artists and Contributors
Author / Creator
Cebola, Inês
Patch, Ann-Marie
Flanagan, Sarah E
De Franco, Elisa
Caswell, Richard
Rodríguez-Seguí, Santiago A
Shaw-Smith, Charles
Cho, Candy H-H
Allen, Hana Lango
Houghton, Jayne A L
Roth, Christian L
Chen, Rongrong
Hussain, Khalid
Marsh, Phil
Vallier, Ludovic
Murray, Anna
Ellard, Sian
Ferrer, Jorge
Hattersley, Andrew T
International Pancreatic Agenesis Consortium
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4131753
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4131753
Other Identifiers
ISSN
1061-4036
E-ISSN
1546-1718
DOI
10.1038/ng.2826
