Mutation discovery for Mendelian traits in non-laboratory animals: a review of achievements up to 2012.

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Published in Anim Genet on December 26, 2013

Authors

Frank W Nicholas1, Matthew Hobbs

Author Affiliations

1: Faculty of Veterinary Science, University of Sydney, Sydney, NSW, 2006, Australia.

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Double muscling in cattle due to mutations in the myostatin gene. Proc Natl Acad Sci U S A (1997) 6.72

Primary structure and expression from complementary DNA of skeletal muscle ryanodine receptor. Nature (1989) 6.07

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