Copy number variation in MODY diabetes - Familial case presentation

Copy number variation in MODY diabetes - Familial case presentation

MODY (maturity-onset diabetes of the young) is an autosomal dominant form of diabetes that is usually manifested before the 25-year of life. This type of diabetes is caused by defects in the primary insulin secretion. There are several types of MODY, which are monogenic diseases, where mutations in...

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Main Authors: Naida Lojo-Kadric, Zelija Velija Asimi, Jasmin Ramic, Ksenija Radic, Lejla Pojskic
Format: Article
Language:English
Published: University of Sarajevo, Institute for Genetic Engineering and Biotechnology 2018-12-01
Series:Genetics & Applications
Online Access:http://www.genapp.ba/index.php/genapp/article/view/65
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spelling doaj-ebb69bd9e8724fa4a50e82c55afaaaeb2020-11-25T00:05:02ZengUniversity of Sarajevo, Institute for Genetic Engineering and Biotechnology Genetics & Applications2566-29372566-431X2018-12-0122737710.31383/ga.vol2iss2pp73-7765Copy number variation in MODY diabetes - Familial case presentationNaida Lojo-Kadric0Zelija Velija Asimi1Jasmin Ramic2Ksenija Radic3Lejla Pojskic4University of Sarajevo - Institute for genetic engineering and biotechnologyUniversity of Sarajevo - Faculty of medicineUniversity of Sarajevo - Institute for Genetic Engineering and BiotechnologyUniversity of Sarajevo - Institute for Genetic Engineering and BiotechnologyUniversity of Sarajevo - Institute for Genetic Engineering and BiotechnologyMODY (maturity-onset diabetes of the young) is an autosomal dominant form of diabetes that is usually manifested before the 25-year of life. This type of diabetes is caused by defects in the primary insulin secretion. There are several types of MODY, which are monogenic diseases, where mutations in a single gene are responsible for a particular type of MODY. Currently, there are eleven types of MODY, from which the most common types are MODY 2 and MODY 3 (with mutations on GCK and HNF1A genes, respectively). We identified very rare MODY 7 type of diabetes in three family members by MLPA analysis.http://www.genapp.ba/index.php/genapp/article/view/65
collection DOAJ
language English
format Article
sources DOAJ
author Naida Lojo-Kadric
Zelija Velija Asimi
Jasmin Ramic
Ksenija Radic
Lejla Pojskic
spellingShingle Naida Lojo-Kadric
Zelija Velija Asimi
Jasmin Ramic
Ksenija Radic
Lejla Pojskic
Copy number variation in MODY diabetes - Familial case presentation
Genetics & Applications
author_facet Naida Lojo-Kadric
Zelija Velija Asimi
Jasmin Ramic
Ksenija Radic
Lejla Pojskic
author_sort Naida Lojo-Kadric
title Copy number variation in MODY diabetes - Familial case presentation
title_short Copy number variation in MODY diabetes - Familial case presentation
title_full Copy number variation in MODY diabetes - Familial case presentation
title_fullStr Copy number variation in MODY diabetes - Familial case presentation
title_full_unstemmed Copy number variation in MODY diabetes - Familial case presentation
title_sort copy number variation in mody diabetes - familial case presentation
publisher University of Sarajevo, Institute for Genetic Engineering and Biotechnology
series Genetics & Applications
issn 2566-2937
2566-431X
publishDate 2018-12-01
description MODY (maturity-onset diabetes of the young) is an autosomal dominant form of diabetes that is usually manifested before the 25-year of life. This type of diabetes is caused by defects in the primary insulin secretion. There are several types of MODY, which are monogenic diseases, where mutations in a single gene are responsible for a particular type of MODY. Currently, there are eleven types of MODY, from which the most common types are MODY 2 and MODY 3 (with mutations on GCK and HNF1A genes, respectively). We identified very rare MODY 7 type of diabetes in three family members by MLPA analysis.
url http://www.genapp.ba/index.php/genapp/article/view/65
work_keys_str_mv AT naidalojokadric copynumbervariationinmodydiabetesfamilialcasepresentation
AT zelijavelijaasimi copynumbervariationinmodydiabetesfamilialcasepresentation
AT jasminramic copynumbervariationinmodydiabetesfamilialcasepresentation
AT ksenijaradic copynumbervariationinmodydiabetesfamilialcasepresentation
AT lejlapojskic copynumbervariationinmodydiabetesfamilialcasepresentation
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