Variants influencing age at diagnosis of HNF1A-MODY
Variants influencing age at diagnosis of HNF1A-MODY
About this item
Full title
Author / Creator
Ludwig-Słomczyńska, Agnieszka H , Seweryn, Michał T , Radkowski, Piotr , Kapusta, Przemysław , Machlowska, Julita , Pruhova, Stepanka , Gasperikova, Daniela , Bellanne-Chantelot, Christine , Hattersley, Andrew , Kandasamy, Balamurugan , Letourneau-Freiberg, Lisa , Philipson, Louis , Doria, Alessandro , Wołkow, Paweł P , Małecki, Maciej T and Klupa, Tomasz
Publisher
England: Springer
Journal title
Language
English
Formats
Publication information
Publisher
England: Springer
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Scope and Contents
Contents
HNF1A-MODY is a monogenic form of diabetes caused by variants in the HNF1A gene. Different HNF1A variants are associated with differences in age of disease onset, but other factors are postulated to influence this trait. Here, we searched for genetic variants influencing age of HNF1A-MODY onset.
Blood samples from 843 HNF1A-MODY patients from Cz...
Alternative Titles
Full title
Variants influencing age at diagnosis of HNF1A-MODY
Authors, Artists and Contributors
Author / Creator
Seweryn, Michał T
Radkowski, Piotr
Kapusta, Przemysław
Machlowska, Julita
Pruhova, Stepanka
Gasperikova, Daniela
Bellanne-Chantelot, Christine
Hattersley, Andrew
Kandasamy, Balamurugan
Letourneau-Freiberg, Lisa
Philipson, Louis
Doria, Alessandro
Wołkow, Paweł P
Małecki, Maciej T
Klupa, Tomasz
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Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_1277379c6c1841b58fa7e39cbf7164b8
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_1277379c6c1841b58fa7e39cbf7164b8
Other Identifiers
ISSN
1076-1551
E-ISSN
1528-3658
DOI
10.1186/s10020-022-00542-0
