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Diabetes caused by insulin gene (INS) deletion: clinical characteristics of homozygous and heterozygous individuals

14 May 2011

Abstract excerpt

BACKGROUND: Mutations of the preproinsulin gene (INS) account for both permanent neonatal diabetes (PND) and adult-onset diabetes. The molecular mechanism of complete INS deletion has recently been published and we now add clinical data of homozygous and heterozygous subjects as well as the detailed mapping of the 646 bp deletion of the INS gene. METHODS: Location and size of the INS deletion was mapped in one...

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PMID: 21566073
DOI: 10.1530/eje-11-0208

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