Article
Identification of eight new mutations in the GCK gene by DHPLC screening in a Spanish population.
Diabetes research and clinical practice - 1 Jul 2009
Solera Jesús, Arias Pedro, Amiñoso Cintia, González-Casado Isabel, Garre Pilar, Herranz Lucrecia, Villarroel Africa, Cruz Marta, Jáñez Mercedes, Pallardo Luís Felipe, Gracia Ricardo
Abstract excerpt
Maturity onset diabetes of the young (MODY) is a genetically heterogeneous disorder characterized by autosomal dominant inheritance, altered function of pancreatic beta cells and early onset diabetes mellitus, usually before 25 years old. The prevalence of specific mutations of MODY genes differs considerably among different countries. In this study we analyzed 53 index cases from unrelated MODY families who are...
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