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Detection of homozygous lethal mutations in small ruminants. Détection de mutations homozygotes létales chez les petits ruminants

Archive ouverte | Ben Braiek, Maxime | CCSD

Genetic defects, defined as phenotypes more or less deleterious and deviating from a population, result from unique natural mutations in DNA. They are rare and hereditary. It is estimated that each individual carries 1 to 5 highly...

Identification of recessive lethal mutations in sheep using homozygosity deficiency

Archive ouverte | Fabre, Stéphane | CCSD

Session 68. Small ruminant health and welfare aspects. International audience. Livestock, similar to humans, harbor deleterious mutations within their genomes. These recessive mutations, when present in the homozygo...

La génomique au service de la découverte d’anomalies génétiques chez le mouton. Le cas d’une affection respiratoire, la dyskinésie ciliaire pulmonaire

Archive ouverte | Fabre, Stéphane | CCSD

National audience. A reverse genetic screen has recently identified a recessive mutation responsible for fatal respiratory failure in Lacaune sheep lambs.This mutation, located on the CCDC65 gene, causes the formati...

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