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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...
में बचाया:
| में प्रकाशित: | Diabetes |
|---|---|
| मुख्य लेखकों: | , , , , , , , , , , , |
| स्वरूप: | Artigo |
| भाषा: | Inglês |
| प्रकाशित: |
American Diabetes Association
2016
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| विषय: | |
| ऑनलाइन पहुंच: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5001172/ https://ncbi.nlm.nih.gov/pubmed/27284104 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2337/db15-1666 |
| टैग : |
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