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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Bibliografiset tiedot
Päätekijät: 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.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: National Academy of Sciences 2007
Aiheet:
Biological Sciences
Linkit: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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