Mutations in the gene for the E1β subunit: A novel cause of pyruvate dehydrogenase deficiency

Human Genetics

Volumn 115, Issue 2, 2004, Pages 123-127

  Brown, Ruth M ^a   Head, Rosemary A ^a   Boubriak, Ivan I ^a   Leonard, James V ^b   Thomas, Neil H ^c   Brown, Garry K ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c SOUTHAMPTON GENERAL HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

AMMONIA; BICARBONATE; COMPLEMENTARY DNA; LACTIC ACID; MESSENGER RNA; PYRUVATE DEHYDROGENASE COMPLEX;

ARTICLE; ARTIFICIAL VENTILATION; BIOCHEMISTRY; BRAIN RADIOGRAPHY; CASE REPORT; CONSANGUINITY; CORPUS CALLOSUM AGENESIS; DEATH; ENZYME ACTIVITY; ENZYME SUBUNIT; FIBROBLAST CULTURE; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; GENETIC TRANSFECTION; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPERAMMONEMIA; IMMUNOREACTIVITY; INFANT; KETOGENIC DIET; LACTIC ACIDOSIS; MALE; METABOLIC ACIDOSIS; MISSENSE MUTATION; MUSCLE HYPOTONIA; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY; REFLEX DISORDER; RESPIRATORY ARREST; SEQUENCE ANALYSIS; STRIDOR; VISUAL DISORDER; X CHROMOSOME LINKAGE; BIOLOGICAL MODEL; CHEMICAL STRUCTURE; GENETICS; MUTATION; PROTEIN SECONDARY STRUCTURE;

HUMANS; INFANT; MALE; MODELS, GENETIC; MODELS, MOLECULAR; MUTATION; PROTEIN STRUCTURE, SECONDARY; PYRUVATE DEHYDROGENASE COMPLEX; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY DISEASE; TRANSFECTION;

EID: 3543034595     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (19)

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