Novel mutations of the glutaryl-CoA dehydrogenase gene in two japanese patients with glutaric aciduria type I

American Journal of Medical Genetics

Volumn 80, Issue 4, 1998, Pages 327-329

  Ikeda, Hiroyuki ^a   Kimura, Toshiyuki ^a   Ikegami, Tohru ^a   Kato, Mitsuhiro ^a   Matsunaga, Akira ^a   Yokoyarna, Shinkichi ^b   Yamaguchi, Seiji ^c   Ohura, Toshihiro ^d   Hayasaka, Kiyoshi ^a  

^a YAMAGATA UNIVERSITY   (Japan)

^b Yamagata City Hospital   (Japan)

^c SHIMANE UNIVERSITY   (Japan)

^d TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Glutaric aciduria type I; Glutaryl CoA dehydrogenase

Indexed keywords

GLUTARIC ACID; GLUTARYL COENZYME A DEHYDROGENASE;

ACIDURIA; ADULT; AMINO ACID SEQUENCE; ARTICLE; CASE REPORT; GENETIC ANALYSIS; GENETIC LINKAGE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MALE; POINT MUTATION; PRIORITY JOURNAL;

AMINO ACID METABOLISM, INBORN ERRORS; AMINO ACID SUBSTITUTION; FEMALE; GENES; GLUTARATES; GLUTARYL-COA DEHYDROGENASE; HUMANS; INFANT; JAPAN; MALE; MUTATION; OXIDOREDUCTASES; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; PEDIGREE;

EID: 0031770938     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19981204)80:4<327::AID-AJMG5>3.0.CO;2-6     Document Type: Article

References (10)

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