Molecular pathogenesis of a novel mutation, G108D, in short-chain acyl-CoA dehydrogenase identified in subjects with short-chain acyl-CoA dehydrogenase deficiency

Human Genetics

Volumn 127, Issue 6, 2010, Pages 619-628

  Shirao, Kenichiro ^a   Okada, Satoshi ^a   Tajima, Go ^a   Tsumura, Miyuki ^a   Hara, Keiichi ^a   Yasunaga, Shin'Ichiro ^b   Ohtsubo, Motoaki ^b   Hata, Ikue ^c   Sakura, Nobuo ^d   Shigematsu, Yosuke ^c   Takihara, Yoshihiro ^b   Kobayashi, Masao ^a  

^a HIROSHIMA UNIVERSITY   (Japan)

^b HIROSHIMA UNIVERSITY   (Japan)

^c UNIVERSITY OF FUKUI   (Japan)

^d Nursing House for Severe Motor and Intellectual Disabilities Suzugamine   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

BUTYRYL COENZYME A DEHYDROGENASE; FATTY ACID; RECOMBINANT PROTEIN;

AUTOPHAGY; BLOOD SAMPLING; BUTYRYL COENZYME A DEHYDROGENASE DEFICIENCY; CASE REPORT; CHILD; FEMALE; GENE EXPRESSION SYSTEM; GENETIC DISORDER; GENETIC VARIABILITY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MOLECULAR GENETICS; MUSCLE HYPOTONIA; MUTANT; MUTATION; MYOPATHY; NEWBORN SCREENING; PATHOGENESIS; PATHOPHYSIOLOGY; PRESCHOOL CHILD; PRIORITY JOURNAL; REVIEW; SEQUENCE ANALYSIS; TANDEM MASS SPECTROMETRY; TRANSIENT EXPRESSION; WILD TYPE; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; DISORDERS OF LIPID AND LIPOPROTEIN METABOLISM; GENE; GENETICS; GENOTYPE; HETEROZYGOTE; METABOLISM; MITOCHONDRION; NEWBORN; NUCLEOTIDE SEQUENCE; OXIDATION REDUCTION REACTION; PROTEIN SECONDARY STRUCTURE;

AMINO ACID METABOLISM, INBORN ERRORS; BASE SEQUENCE; BUTYRYL-COA DEHYDROGENASE; GENES; GENOTYPE; HETEROZYGOTE; HUMANS; INFANT, NEWBORN; LIPID METABOLISM DISORDERS; MITOCHONDRIA; MOLECULAR SEQUENCE DATA; MUTATION; OXIDATION-REDUCTION; PROTEIN STRUCTURE, SECONDARY; RECOMBINANT PROTEINS;

EID: 77953368200     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-010-0822-7     Document Type: Review

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