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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

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Year: 1998
Type: article
Study design: Observational Study
Source: The American Journal of Human Genetics
DOI: 10.1086/301730
Authors: 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
Institutions: Centre Hospitalier Universitaire Sainte-Justine, King Faisal Specialist Hospital & Research Centre, Medical College of Wisconsin, Amsterdam UMC Location University of Amsterdam
Language: English

Topic: Metabolism and Genetic Disorders
Subfield: Clinical Biochemistry
Field: Biochemistry, Genetics and Molecular Biology
Domain: Life Sciences
SDG: Good health and well-being

Open Access status: bronze

Funders: National Institutes of Health, Medical Research Council, National Institute of Diabetes and Digestive and Kidney Diseases
Award: G2415169878
OpenAlex ID: W2140463678
FWCI: 2.194
Cites: 30
Cited by: 47
Related to: 10
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