Insulin gene mutations as a cause of permanent neonatal diabetes

We report 10 heterozygous mutations in the human insulin gene in 16 probands with neonatal diabetes. A combination of linkage and a candidate gene approach in a family with four diabetic members led to the identification of the initial INS gene mutation. The mutations are inherited in an autosomal d...

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Main Authors: Støy, Julie, Edghill, Emma L., Flanagan, Sarah E., Ye, Honggang, Paz, Veronica P., Pluzhnikov, Anna, Below, Jennifer E., Hayes, M. Geoffrey, Cox, Nancy J., Lipkind, Gregory M., Lipton, Rebecca B., Greeley, Siri Atma W., Patch, Ann-Marie, Ellard, Sian, Steiner, Donald F., Hattersley, Andrew T., Philipson, Louis H., Bell, Graeme I.
格式: Artigo
語言:Inglês
出版: National Academy of Sciences 2007
主題:
Biological Sciences
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC1986609/
https://ncbi.nlm.nih.gov/pubmed/17855560
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0707291104
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