Mutation of E1α gene in a female patient with pyruvate dehydrogenase deficiency due to rapid degradation of E1 protein

Journal of Inherited Metabolic Disease

Volumn 15, Issue 6, 1992, Pages 848-856

  Ito, M ^a   Huq, A H M M ^a   Naito, E ^a   Saijo, T ^a   Takeda, E ^a   Kuroda, Y ^a  

^a UNIVERSITY OF TOKUSHIMA   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

PYRUVATE DEHYDROGENASE;

ALPHA CHAIN; AMINO ACID SEQUENCE; ARTICLE; BETA CHAIN; CASE REPORT; CHROMOSOME FRAGILE SITE; CONTROLLED STUDY; DELETION MUTANT; DNA RECOMBINATION; ENZYME DEFICIENCY; FEMALE; FIBROBLAST CULTURE; FRAMESHIFT MUTATION; GENE MUTATION; HETEROZYGOSITY; HUMAN; INBORN ERROR OF METABOLISM; INFANT; LACTIC ACIDEMIA; NEUROLOGIC DISEASE; NEWBORN; PHENOTYPE; PROTEIN DEFECT; PROTEIN DEGRADATION; PROTEIN STABILITY; REGULATOR GENE; SKIN FIBROBLAST; X CHROMOSOME;

ALLELES; BASE SEQUENCE; CASE REPORT; CLONING, MOLECULAR; DNA; DNA TRANSPOSABLE ELEMENTS; EXONS; FEMALE; FRAMESHIFT MUTATION; HETEROZYGOTE; HUMAN; INFANT; MOLECULAR SEQUENCE DATA; POLYMERASE CHAIN REACTION; PYRUVATE DEHYDROGENASE (LIPOAMIDE); PYRUVATE DEHYDROGENASE COMPLEX; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY DISEASE; SUPPORT, NON-U.S. GOV'T;

EID: 0027064781     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/BF01800220     Document Type: Article

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