AB096. Pharmaco-genetic guided personalized medicine: discovery of a maturity onset diabetes of the young (MODY2) novel mutation [S441W in glucose kinase (GCK) gene] by next generation sequencing (NGS)

BACKGROUND AND OBJECTIVE: Monogenic diabetes or maturity onset diabetes of the young (MODY) is characterized by young-onset (<45 years old), non-insulin dependence and a strong family history (autosomal dominant mode of inheritance). The major candidate genes include HNF4α (MODY1), glucose kinase...

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Detalhes bibliográficos
Publicado no:Ann Transl Med
Main Authors: Clara, Tan Si Hua, Fen, Ang Su, Jessie, Fong Choi Wan, Ester, Yeoh Chai Kheng, Subramaniam, Tavintharan, Fang, Sum Chee, Chi, Lim Su
Formato: Artigo
Idioma:Inglês
Publicado em: AME Publishing Company 2015
Assuntos:
Part 4: Oral/poster
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4563510/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3978/j.issn.2305-5839.2015.AB096
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