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Open Access 01-04-2016 | Letter to the Editor

Single patient in GCK-MODY family successfully re-diagnosed into GCK-PNDM through targeted next-generation sequencing technology

Authors: Karolina Antosik, Piotr Gnys, Elisa De Franco, Maciej Borowiec, Malgorzata Mysliwiec, Sian Ellard, Wojciech Mlynarski

Published in: Acta Diabetologica | Issue 2/2016

Excerpt

To the Editor, …

Borowiec M, Mysliwiec M, Fendler W, Antosik K, Brandt A, Malecki M, Mlynarski W (2011) Phenotype variability and neonatal diabetes in a large family with heterozygous mutation of the glucokinase gene. Acta Diabetol 48(3):203–208CrossRefPubMedPubMedCentral

Demirbilek H, Arya VB, Ozbek MN, Houghton J, Baran RT, Akar M, Tekes S, Tuzun H, Mackay DJG, Flanagan SE, Hattersley AT, Ellard S, Hussain K (2015) Clinical characteristics and molecular genetic analysis of 22 patients with neonatal diabetes from the South-Eastern region of Turkey: predominance of non-KATP channel mutations. Eur J Endocrinol 172(6):697–705CrossRefPubMedPubMedCentral

Ellard S, Lango Allen H, De Franco E, Flanagan SE, Hysenaj G, Colclough K, Houghton JAL, Shepherd M, Hattersley AT, Weedon MN, Caswell R (2013) Improved genetic testing for monogenic diabetes using targeted next-generation sequencing. Diabetologia 56(9):1958–1963CrossRefPubMedPubMedCentral

Van Dijk EL, Auger H, Jaszczyszyn Y, Thermes C (2014) Ten years of next-generation sequencing technology. Trends Genet 30(9):418–426CrossRefPubMed

Title: Single patient in GCK-MODY family successfully re-diagnosed into GCK-PNDM through targeted next-generation sequencing technology
Authors: Karolina Antosik
Piotr Gnys
Elisa De Franco
Maciej Borowiec
Malgorzata Mysliwiec
Sian Ellard
Wojciech Mlynarski
Publication date: 01-04-2016
Publisher: Springer Milan
Published in: Acta Diabetologica / Issue 2/2016
Print ISSN: 0940-5429
Electronic ISSN: 1432-5233
DOI: https://doi.org/10.1007/s00592-015-0786-0

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