Detection of a homozygous four base pair deletion in the protein X gene in a case of pyruvate dehydrogenase complex deficiency

Human Molecular Genetics

Volumn 7, Issue 3, 1998, Pages 501-505

  Ling, Mingfu ^a,b   McEachern, Gillian ^a,b   Seyda, Agnieszka ^a,b   MacKay, Nevi ^a,b   Scherer, Stephen W ^a,b   Bratinova, Sacha ^a,b   Beatty, Barbara ^c   Giovannucci Uzielli, Maria Luisa ^d   Robinson, Brian H ^a,b  

^a UNIVERSITY OF TORONTO   (Canada)

^b HOSPITAL FOR SICK CHILDREN RESEARCH INSTITUTE   (Canada)

^c PRINCESS MARGARET HOSPITAL   (Canada)

^d UNIVERSITY OF FLORENCE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; DNA BASE; PYRUVATE DEHYDROGENASE COMPLEX; SIGNAL PEPTIDE;

ARTICLE; CASE REPORT; CHROMOSOME 11P; CONTROLLED STUDY; DNA SEQUENCE; ENZYME ACTIVITY; GENE DELETION; GENE MAPPING; HOMOZYGOTE; HUMAN; HUMAN CELL; HUMAN TISSUE; MALE; MOLECULAR CLONING; PRIORITY JOURNAL; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY; SCHOOL CHILD; STOP CODON;

AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 11; CLONING, MOLECULAR; CODON, TERMINATOR; HOMOZYGOTE; HUMANS; MACROMOLECULAR SUBSTANCES; MALE; MOLECULAR SEQUENCE DATA; PEPTIDES; PYRUVATE DEHYDROGENASE COMPLEX; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY DISEASE; RECOMBINANT PROTEINS; SEQUENCE DELETION; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 0031887655     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/7.3.501     Document Type: Article

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