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Article

Three novel mutations in MODY and its phenotype in three different Czech families.

Diabetes research and clinical practice - 1 May 2010

Bazalová Z, Rypácková B, Broz J, Brunerová L, Polák J, Rusavý Z, Treslová L, Andel M

Abstract excerpt

AIMS/HYPOTHESIS: MODY (Maturity Onset Diabetes of the Young) is an autosomal dominant inherited type of diabetes with significant genetic heterogeneity. New mutations causing MODY are still being found. A genetically confirmed diagnosis of MODY allows application of individualized treatment based on the underlying concrete genetic dysfunction. Detection of novel MODY mutations helps provide a more complete...

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Source

Identifiers

PMID: 20132997
DOI: 10.1016/j.diabres.2010.01.005

Genes

GCK

Variants

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