Molecular characterization of 6-pyruvoyl-tetrahydropterin synthase deficiency in Japanese patients

Journal of Human Genetics

Volumn 44, Issue 3, 1999, Pages 163-168

  Imamura, Takuji ^a   Okano, Yoshiyuki ^a   Shintaku, Haruo ^a   Hase, Yutaka ^b   Isshiki, Gen ^a  

^a OSAKA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b Osaka City Public Health Center   (Japan)

Author keywords

6 Pyruvoyl tetrahydropterin synthase (PTPS) deficiency; Missense; Mutation; Phenotype and genotype; Splicing; Tetrahydrobiopterin

Indexed keywords

CARBIDOPA PLUS LEVODOPA; DNA; DYSPROPTERIN; DYSPROPTERIN SYNTHASE; PHENYLALANINE; SEROTONIN; SYNTHETASE; TETRAHYDROBIOPTERIN; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; CASE REPORT; CHILD; CONTROLLED STUDY; DNA SEQUENCE; ENZYME ACTIVITY; ENZYME DEFICIENCY; GENOTYPE; HUMAN; HYPERPHENYLALANINEMIA; JAPAN; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; MUSCLE HYPOTONIA; PHENOTYPE; PSYCHOMOTOR DISORDER; RNA SPLICING; TONIC SEIZURE;

AMINO ACID METABOLISM, INBORN ERRORS; ASIAN CONTINENTAL ANCESTRY GROUP; DNA, COMPLEMENTARY; GESTATIONAL AGE; HUMANS; INFANT; INFANT, NEWBORN; JAPAN; MALE; MUTATION, MISSENSE; PHENYLALANINE; PHOSPHORUS-OXYGEN LYASES; SEQUENCE ANALYSIS, DNA;

EID: 0032895088     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100380050134     Document Type: Article

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