GATA6 haploinsufficiency causes pancreatic agenesis in humans

Nature Genetics

Volumn 44, Issue 1, 2012, Pages 20-22

  Allen, Hana Lango ^a   Flanagan, Sarah E ^a   Shaw Smith, Charles ^a   De Franco, Elisa ^a   Akerman, Ildem ^b,c,d   Caswell, Richard ^a   Ferrer, Jorge ^b,c,d   Hattersley, Andrew T ^a   Ellard, Sian ^a  

^a UNIVERSITY OF EXETER   (United Kingdom)

^b ALBA SYNCHROTRON LIGHT SOURCE   (Spain)

^c INSTITUTO DE SALUD CARLOS III   (Spain)

^d HOSPITAL CLÍNIC   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR GATA 6;

AGENESIS; ARTICLE; DIABETES MELLITUS; EXOME; FRAMESHIFT MUTATION; GENE MUTATION; HAPLOINSUFFICIENCY; HETEROZYGOUS MUTATION; HUMAN; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONHUMAN; ORGANOGENESIS; PANCREAS AGENESIS; PANCREAS DEVELOPMENT; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FUNCTION; SEQUENCE ANALYSIS; TRANSCRIPTION REGULATION;

GATA6 TRANSCRIPTION FACTOR; HAPLOINSUFFICIENCY; HUMANS; PANCREAS; PHENOTYPE;

EID: 84655167736     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.1035     Document Type: Article

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