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International Journal of Diabetes in Developing Countries

Erschienen in:

01.12.2013 | Case Report

Permanent neonatal diabetes due to a novel L105P (c.314T>C; p.Leu105Pro) heterozygous mutation in insulin gene

verfasst von: Vinayak Y. Kshirsagar, Minhajuddin Ahmed, Sylvia Colaco, Jayne A. L. Houghton, Sian Ellard

Erschienen in: International Journal of Diabetes in Developing Countries | Ausgabe 4/2013

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Abstract

Neonatal diabetes mellitus (NDM) is a rare form of monogenic diabetes accounting for 1–2 % diabetes in young people. We report a case of 1 month old infant with permanent NDM due to mutation of L105P (c.314T>C;p.Leu105Pro) heterozygous in exon 3 of insulin gene. Glycemic control was obtained with insulin therapy. To our knowledge this mutation has not been reported in literature.

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Titel: Permanent neonatal diabetes due to a novel L105P (c.314T>C; p.Leu105Pro) heterozygous mutation in insulin gene
verfasst von: Vinayak Y. Kshirsagar
Minhajuddin Ahmed
Sylvia Colaco
Jayne A. L. Houghton
Sian Ellard
Publikationsdatum: 01.12.2013
Verlag: Springer India
Erschienen in: International Journal of Diabetes in Developing Countries / Ausgabe 4/2013
Print ISSN: 0973-3930
Elektronische ISSN: 1998-3832
DOI: https://doi.org/10.1007/s13410-013-0153-z

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Springer Medizin

Permanent neonatal diabetes due to a novel L105P (c.314T>C; p.Leu105Pro) heterozygous mutation in insulin gene

Abstract

Live-Webinar "Chronische Unterbauch- und Viszeralschmerzen in der Praxis managen"

Springer Medizin

Abstract

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