Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: One of the variant alleles, 511C→T, is present at an unexpectedly high frequency in the general population, as was the case for 625G→A, together conferring susceptibility to ethylmalonic aciduria

Human Molecular Genetics

Volumn 7, Issue 4, 1998, Pages 619-627

  Gregersen, Niels ^a   Winter, Vibeke S ^a   Corydon, Morten J ^a   Corydon, Thomas J ^b   Rinaldo, Piero ^c   Ribes, Antonia ^d   Martinez, Gemma ^d   Bennett, Michael J ^e   Vianey Saban, Christine ^f   Bhala, Ajay ^g   Hale, Daniel E ^g,h   Lehnert, Willy ⁱ   Kmoch, Stanislav ^j   Roig, Manel ^k   Riudor, Encamaclo ^k   Eiberg, Hans ^l   Andresen, Brage S ^a   Bross, Peter ^a   Bolund, Lars A ^b   Kølvraa, Steen ^a  

^a AARHUS UNIVERSITY HOSPITAL   (Denmark)

^b AARHUS UNIVERSITY   (Denmark)

^c YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d Institut de Bioquimica Clinica Barcelona   (Spain)

^e UNIVERSITY OF TEXAS AT DALLAS   (United States)

^f HÔPITAL DEBROUSSE   (France)

^g CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^h UNIVERSITY OF TEXAS HEALTH SCIENCE CENTER AT SAN ANTONIO   (United States)

ⁱ UNIVERSITY OF FREIBURG   (Germany)

^j CHARLES UNIVERSITY   (Czech Republic)

^k HOSPITAL MATERNO INFANTIL VALL D HEBRON   (Spain)

^l UNIVERSITY OF COPENHAGEN   (Denmark)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ACYL COENZYME A DEHYDROGENASE; DNA; MALONIC ACID DERIVATIVE;

ACIDURIA; ALLELE; ANIMAL CELL; ARTICLE; CASE REPORT; CONTROLLED STUDY; DNA POLYMORPHISM; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; GENE FREQUENCY; GENE MUTATION; GENETIC SUSCEPTIBILITY; HAPLOTYPE; HETEROZYGOTE; HUMAN; HUMAN CELL; MALE; MISSENSE MUTATION; NONHUMAN; POINT MUTATION; PRIORITY JOURNAL; PROTEIN VARIANT; TEMPERATURE SENSITIVITY;

ACYL-COA DEHYDROGENASE; ACYL-COA DEHYDROGENASES; ALLELES; ANIMALS; BLOTTING, WESTERN; CELLS, CULTURED; COS CELLS; DNA, COMPLEMENTARY; FEMALE; FIBROBLASTS; GENE FREQUENCY; HUMANS; INFANT; INFANT, NEWBORN; MALE; MALONATES; MUTATION; TEMPERATURE;

ANIMALIA; PRIACANTHUS HAMRUR;

EID: 6844258223     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/7.4.619     Document Type: Article

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