Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequen...
Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5
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Author / Creator
Bellanné-Chantelot, Christine , Clauin, Séverine , Chauveau, Dominique , Collin, Philippe , Daumont, Michèle , Douillard, Claire , Dubois-Laforgue, Danièle , Dusselier, Laurent , Gautier, Jean-François , Jadoul, Michel , Laloi-Michelin, Marie , Jacquesson, Laetitia , Larger, Etienne , Louis, Jacques , Nicolino, Marc , Subra, Jean-François , Wilhem, Jean-Marie , Young, Jacques , Velho, Gilberto and Timsit, José
Publisher
United States
Journal title
Language
English
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Publisher
United States
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More information
Scope and Contents
Contents
Maturity-onset diabetes of the young (MODY) 5 is caused by mutations in the TCF2 gene encoding the transcription factor hepatocyte nuclear factor-1beta. However, in 60% of the patients with a phenotype suggesting MODY5, no point mutation is detected in TCF2. We have hypothesized that large genomic rearrangements of TCF2 that are missed by conventio...
Alternative Titles
Full title
Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5
Authors, Artists and Contributors
Author / Creator
Clauin, Séverine
Chauveau, Dominique
Collin, Philippe
Daumont, Michèle
Douillard, Claire
Dubois-Laforgue, Danièle
Dusselier, Laurent
Gautier, Jean-François
Jadoul, Michel
Laloi-Michelin, Marie
Jacquesson, Laetitia
Larger, Etienne
Louis, Jacques
Nicolino, Marc
Subra, Jean-François
Wilhem, Jean-Marie
Young, Jacques
Velho, Gilberto
Timsit, José
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Record Identifier
TN_cdi_proquest_miscellaneous_68729127
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_68729127
Other Identifiers
ISSN
0012-1797
