HMG CoA lyase deficiency: Identification of five causal point mutations in codons 41 and 42, including a frequent Saudi Arabian mutation, R41Q

American Journal of Human Genetics

Volumn 62, Issue 2, 1998, Pages 295-300

  Mitchell, Grant A ^a   Ozand, Pinar T ^b   Robert, Marie France ^a   Ashmarina, Lyudmila ^a   Roberts, Jacqueline ^c,d   Gibson, K Michael ^e,f   Wanders, Ronald J ^g   Wang, Shupei ^a   Chevalier, Isabelle ^a   Plochl E ^h   Miziorko, Henry ^c  

^a UNIVERSITY OF MONTREAL   (Canada)

^b KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^c MEDICAL COLLEGE OF WISCONSIN   (United States)

^d DEPAUW UNIVERSITY   (United States)

^e BAYLOR RESEARCH INSTITUTE   (United States)

^f OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^g ACADEMIC MEDICAL CENTER   (Netherlands)

^h St Johanns Spital   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

3 HYDROXY 3 METHYLGLUTARYL COENZYME A; LYASE;

ALLELE; ARTICLE; CLINICAL ARTICLE; CODON; ENZYME ASSAY; ENZYME DEFICIENCY; FRAMESHIFT MUTATION; GENETIC DISORDER; GENOTYPE; HUMAN; MISSENSE MUTATION; POINT MUTATION; PRIORITY JOURNAL; PROTEIN PURIFICATION; SAUDI ARABIA; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 17344366692     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301730     Document Type: Article

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