Dihydropyrimidinase deficiency: Structural organization, chromosomal localization, and mutation analysis of the human dihydropyrimidinase gene

American Journal of Human Genetics

Volumn 63, Issue 3, 1998, Pages 717-726

  Hamajima, Naoki ^a   Kouwaki, Masanori ^a   Vreken, Peter ^c   Matsuda, Kouichi ^d   Sumi, Satoshi ^a   Imaeda, Masayuki ^a   Ohba, Satoru ^a   Kidouchi, Kiyoshi ^a   Nonaka, Masaru ^b   Sasaki, Makoto ^b   Tamaki, Nanaya ^d   Endo, Yuichi ^e   De Abreu, Ronnie ^f   Rotteveel, Jan ^f   Van Kuilenburg, André ^c   Van Gennip, Albert ^c   Togari, Hajime ^a   Wada, Yoshiro ^a  

^a Nagoya City Higashi General Hospital   (Japan)

^b NAGOYA CITY UNIV MEDICAL SCHOOL   (Japan)

^c UNIVERSITY OF AMSTERDAM   (Netherlands)

^d KOBE GAKUIN UNIVERSITY   (Japan)

^e FUKUSHIMA MEDICAL UNIVERSITY   (Japan)

^f RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

DIHYDROPYRIMIDINASE; DIHYDROTHYMINE; DIHYDROURACIL; DNA; FLUOROURACIL; MESSENGER RNA; PYRIMIDINE DERIVATIVE; THYMINE; UNCLASSIFIED DRUG; URACIL;

ADULT; ARTICLE; CHROMOSOMAL LOCALIZATION; CHROMOSOME 8Q; CLINICAL ARTICLE; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; DNA SEQUENCE; ENZYME ACTIVITY; ENZYME DEFICIENCY; ENZYME STRUCTURE; EPILEPSY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FRAMESHIFT MUTATION; HUMAN; HUMAN CELL; INFANT; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PYRIMIDINE METABOLISM;

EID: 0032231926     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302022     Document Type: Article

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