A bovine model of rhizomelic chondrodysplasia punctata caused by a deep intronic splicing variant in...
A bovine model of rhizomelic chondrodysplasia punctata caused by a deep intronic splicing variant in the GNPAT gene
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Author / Creator
Boulling, Arnaud , Corbeau, Julien , Grohs, Cécile , Barbat, Anne , Mortier, Jérémy , Taussat, Sébastien , Plassard, Vincent , Leclerc, Hélène , Fritz, Sébastien , Leymarie, Cyril , Bourgeois-Brunel, Lorraine , Ducos, Alain , Guatteo, Raphaël , Boichard, Didier , Boussaha, Mekki and Capitan, Aurélien
Publisher
France: BioMed Central Ltd
Journal title
Language
English
Formats
Publication information
Publisher
France: BioMed Central Ltd
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Scope and Contents
Contents
Genetic defects that occur naturally in livestock species provide valuable models for investigating the molecular mechanisms underlying rare human diseases. Livestock breeds are subject to the regular emergence of recessive genetic defects due to genetic drift and recent inbreeding. At the same time, their large population sizes provide easy access...
Alternative Titles
Full title
A bovine model of rhizomelic chondrodysplasia punctata caused by a deep intronic splicing variant in the GNPAT gene
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Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_a37bbf4254954bebb126ca9fa1a8f4a8
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_a37bbf4254954bebb126ca9fa1a8f4a8
Other Identifiers
ISSN
1297-9686,0999-193X
E-ISSN
1297-9686
DOI
10.1186/s12711-025-00969-z
