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HMG CoA Lyase Deficiency: Identification of Five Causal Point Mutations in Codons 41 and 42, Including a Frequent Saudi Arabian Mutation, R41Q

Author:

Grant A. Mitchell,Pinar T. Ozand,Marie-France Robert,Lyudmila Ashmarina,Jacqueline Roberts,K. Michael Gibson,Ronald J. Wanders,Shupei Wang,Isabelle Chevalier,E. Plöchl,Henry Miziorko

Publication:

The American Journal of Human Genetics

Publisher:

Elsevier

Date:

February 1998

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