Mutation analysis of the pyruvate dehydrogenase E1α gene in eight patients with a pyruvate dehydrogenase complex deficiency

Human Mutation

Volumn 7, Issue 1, 1996, Pages 46-51

  Lissens, Willy ^a   De Meirleir, Linda ^a   Seneca, Sara ^a   Benelli, Chantal ^b   Marsac, Cécile ^b   Poll The, Bwee Tien ^e   Briones, Paz ^g   Ruitenbeek, Wim ^d   Van Diggelen, Otto ^f   Chaigne, Denis ^c   Ramaekers, Vincent ^h   Liebaers, Ingeborg ^a  

^a UNIVERSITY HOSPITAL BRUSSELS   (Belgium)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c HÔPITAL CIVIL   (France)

^d RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^e UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^f ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

^g CSIC   (Spain)

^h RWTH AACHEN UNIVERSITY   (Germany)

Author keywords

Mutation analysis; Pyruvate dehydrogenase E1 ; RT PCR; SSCP

Indexed keywords

PYRUVATE DEHYDROGENASE; RNA POLYMERASE;

AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME DEFICIENCY; FEMALE; FIBROBLAST CULTURE; GENE AMPLIFICATION; HUMAN; HUMAN CELL; HUMAN TISSUE; MALE; POINT MUTATION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM; X CHROMOSOME LINKAGE;

BASE SEQUENCE; CELLS, CULTURED; CHILD; FEMALE; FIBROBLASTS; HUMANS; INFANT; MALE; MOLECULAR SEQUENCE DATA; MUTATION; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PYRUVATE DEHYDROGENASE (LIPOAMIDE); PYRUVATE DEHYDROGENASE COMPLEX; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY DISEASE; REPETITIVE SEQUENCES, NUCLEIC ACID; TRANSCRIPTION, GENETIC; X CHROMOSOME;

EID: 19144362840     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1996)7:1<46::AID-HUMU6>3.0.CO;2-N     Document Type: Article

References (13)

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