Molecular analysis of dihydropteridine reductase deficiency: Identification of two novel mutations in Japanese patients

Human Genetics

Volumn 100, Issue 5-6, 1997, Pages 637-642

  Ikeda, Hiroyuki ^a   Matsubara, Yoichi ^a   Mikami, Hitoshi ^a   Kure, Shigeo ^a   Owada, Misao ^b   Gough, Tamara ^c   Smooker, Peter M ^c   Dobbs, Marion ^c   Dahl, Hans Henrik M ^c   Cotton, Richard G H ^c,d   Narisawa, Kuniaki ^a  

^a TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b NIHON UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^d ST VINCENT S HOSPITAL   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; COMPLEMENTARY DNA; DIHYDROPTERIDINE REDUCTASE; DNA FRAGMENT; MESSENGER RNA; PHENYLALANINE; TRYPTOPHAN;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHILD; CONTROLLED STUDY; ENZYME DEFICIENCY; EXON; FEMALE; GENE INSERTION; GENE MUTATION; HOMOZYGOTE; HUMAN; HUMAN CELL; HYPERPHENYLALANINEMIA; INTRON; JAPAN; MALE; MISSENSE MUTATION; MOLECULAR BIOLOGY; NEUROLOGIC DISEASE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; STOP CODON;

AMINO ACID METABOLISM, INBORN ERRORS; AMINO ACID SEQUENCE; BASE SEQUENCE; DIHYDROPTERIDINE REDUCTASE; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; FEMALE; GENES; HUMANS; INFANT, NEWBORN; INTRONS; JAPAN; MALE; MOLECULAR SEQUENCE DATA; PHENYLALANINE; PHENYLKETONURIAS; POINT MUTATION; RNA SPLICING; RNA, MESSENGER;

EID: 0031409535     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050566     Document Type: Article

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