Isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A Mutation

Homozygous truncating mutations in the helix-loop-helix transcription factor PTF1A are a rare cause of pancreatic and cerebellar agenesis. The correlation of Ptf1a dosage with pancreatic phenotype in a mouse model suggested the possibility of finding hypomorphic PTF1A mutations in patients with panc...

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Detalles Bibliográficos
Autores principales: Houghton, Jayne A.L., Swift, Galvin H., Shaw-Smith, Charles, Flanagan, Sarah E., de Franco, Elisa, Caswell, Richard, Hussain, Khalid, Mohamed, Sarar, Abdulrasoul, Majedah, Hattersley, Andrew T., MacDonald, Raymond J., Ellard, Sian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Diabetes Association 2016
Materias:
Genetics/Genomes/Proteomics/Metabolomics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5001172/
https://www.ncbi.nlm.nih.gov/pubmed/27284104
http://dx.doi.org/10.2337/db15-1666

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5001172/
https://www.ncbi.nlm.nih.gov/pubmed/27284104
http://dx.doi.org/10.2337/db15-1666

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