The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: Is there correlation between genotype and phenotype?

Human Molecular Genetics

Volumn 6, Issue 5, 1997, Pages 695-707

  Andresen, Brage Storstein ^a   Bross, Peter ^a   Udvari, Szabolcs ^a,b   Kirk, Jean ^c   Gray, George ^d   Kmoch, Stanislav ^e   Chamoles, Nestor ^f   Knudsen, Inga ^a   Winter, Vibeke ^a   Wilcken, Bridget ^g   Yokota, Ichiro ^h   Hart, Kimberly ⁱ   Packman, Seymour ⁱ   Harpey, Jean Paul ^j   Saudubray, Jean Marie ^k   Hale, Daniel E ^l   Bolund, Lars ^m   Kølvraa, Steen ^m   Gregersen, Niels ^a  

^a AARHUS UNIVERSITY HOSPITAL   (Denmark)

^b UNIVERSITY COLLEGE DUBLIN   (Ireland)

^c ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^d BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^e Charles University in Prague and General University Hospital in Prague   (Czech Republic)

^f Fund El Estud Las Infermedades N   (Argentina)

^g CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^h YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

ⁱ UNIVERSITY OF CALIFORNIA   (United States)

^j PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^k HÔPITAL NECKER ENFANTS MALADES   (France)

^l Mays Cancer Center at UT Health San Antonio   (United States)

^m AARHUS UNIVERSITY   (Denmark)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CHAPERONIN; MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE; MUTANT PROTEIN;

ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME DEFICIENCY; ESCHERICHIA COLI; FEMALE; GENE MUTATION; GENOTYPE; HETEROZYGOTE; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FOLDING; PROTEIN STABILITY; STOP CODON;

ESCHERICHIA COLI;

EID: 8244255920     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/6.5.695     Document Type: Article

References (56)

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