Sequencing analysis of insulin receptor defects and detection of two novel mutations in INSR gene()

Mutations in the insulin receptor gene cause the inherited insulin resistant syndromes Leprechaunism and Rabson–Mendenhall syndrome. These recessive conditions are characterized by intrauterine and post-natal growth restrictions, dysmorphic features, altered glucose homeostasis, and early demise. Th...

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Detalles Bibliográficos
Autores principales: Ardon, O., Procter, M., Tvrdik, T., Longo, N., Mao, R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2014
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121292/
https://www.ncbi.nlm.nih.gov/pubmed/27896077
http://dx.doi.org/10.1016/j.ymgmr.2013.12.006

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121292/
https://www.ncbi.nlm.nih.gov/pubmed/27896077
http://dx.doi.org/10.1016/j.ymgmr.2013.12.006

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