Deficiency of pyruvate dehydrogenase caused by novel and known mutations in the E1α subunit

American Journal of Medical Genetics

Volumn 131 A, Issue 1, 2004, Pages 59-66

  Cameron, Jessie M ^a   Levandovskiy, Valeriy ^a   MacKay, Neviana ^a,c   Tein, Ingrid ^a,c,d   Robinson, Brian H ^a,b,c  

^a HOSPITAL FOR SICK CHILDREN RESEARCH INSTITUTE   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

^c HOSPITAL FOR SICK CHILDREN   (Canada)

^d UNIVERSITY OF TORONTO   (Canada)

Author keywords

Cultured skin fibroblasts; E1 ; Pyruvate dehydrogenase

Indexed keywords

PYRUVATE DEHYDROGENASE COMPLEX;

ADULT; ALPHA CHAIN; ARTICLE; ATAXIA; CELL ACTIVITY; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; ENZYME SUBUNIT; FEMALE; FIBROBLAST; GENE DUPLICATION; GENE MUTATION; GENETIC DISORDER; HUMAN; HUMAN CELL; INFANT; LEIGH DISEASE; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NEWBORN DISEASE; PHENOTYPIC VARIATION; PRIORITY JOURNAL; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY;

ADULT; AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD; DNA MUTATIONAL ANALYSIS; FEMALE; GENOTYPE; HUMANS; INFANT; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; PYRUVATE DEHYDROGENASE (LIPOAMIDE); PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY DISEASE; SEQUENCE HOMOLOGY, AMINO ACID; VARIATION (GENETICS);

ATAXIA;

EID: 7244236587     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30287     Document Type: Article

References (12)

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