Variations in the poly-histidine repeat motif of HOXA1 contribute to bicuspid aortic valve in mouse...
Variations in the poly-histidine repeat motif of HOXA1 contribute to bicuspid aortic valve in mouse and zebrafish
About this item
Full title
Author / Creator
FranceGenRef Consortium , Odelin, Gaëlle , Faucherre, Adèle , Marchese, Damien , Pinard, Amélie , Jaouadi, Hager , Le Scouarnec, Solena , Chiarelli, Raphaël , Achouri, Younes , Faure, Emilie , Herbane, Marine , Théron, Alexis , Avierinos, Jean-François , Jopling, Chris , Collod-Béroud, Gwenaëlle , Rezsohazy, René and Zaffran, Stéphane
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
Bicuspid aortic valve (BAV), the most common cardiovascular malformation occurs in 0.5–1.2% of the population. Although highly heritable, few causal mutations have been identified in BAV patients. Here, we report the targeted sequencing of
HOXA1
in a cohort of BAV patients and the identification of rare indel variants in the homopolymeric his...
Alternative Titles
Full title
Variations in the poly-histidine repeat motif of HOXA1 contribute to bicuspid aortic valve in mouse and zebrafish
Authors, Artists and Contributors
Author / Creator
Odelin, Gaëlle
Faucherre, Adèle
Marchese, Damien
Pinard, Amélie
Jaouadi, Hager
Le Scouarnec, Solena
Chiarelli, Raphaël
Achouri, Younes
Faure, Emilie
Herbane, Marine
Théron, Alexis
Avierinos, Jean-François
Jopling, Chris
Collod-Béroud, Gwenaëlle
Rezsohazy, René
Zaffran, Stéphane
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_f7e23b8b54634e9f9ca2535ee58a075d
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_f7e23b8b54634e9f9ca2535ee58a075d
Other Identifiers
ISSN
2041-1723
E-ISSN
2041-1723
DOI
10.1038/s41467-023-37110-x
