Cargando…
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...
| Autores principales: | , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2014
|
| Materias: | |
| 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 |