We herein describe a procedure that allows for simultaneous genotyping of six loss‐of‐function mutations in the bovine myostatin gene associated with the double‐muscling phenotype. The proposed method relies on a multiplex oligonucleotide ligation assay and detection of the fluorescently labelled pr
✦ LIBER ✦
Molecular definition of an allelic series of mutations disrupting the myostatin function and causing double-muscling in cattle
✍ Scribed by Luc Grobet; Dominique Poncelet; Luis José Royo; Benoit Brouwers; Dimitri Pirottin; Charles Michaux; François Ménissier; Marta Zanotti; Susana Dunner; Michel Georges
- Publisher
- Springer-Verlag
- Year
- 1998
- Tongue
- English
- Weight
- 939 KB
- Volume
- 9
- Category
- Article
- ISSN
- 0938-8990
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Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency is a life-threatening disorder of mitochondrial fatty acid beta-oxidation. We identified four novel mutations in three unrelated patients. All patients had the severe childhood form of VLCAD deficiency with early onset and high mortality. Imm