Identification of three novel 6-pyruvoyl-tetrahydropterin synthase gene mutations (226C>T, IVS3+1G>A, 116-119delTGTT) in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency.

Human mutation

Volumn 18, Issue 1, 2001, Pages 83-

  Liu, T T ^a   Chang, Y H ^a   Chiang, S H ^a   Yang, Y L ^a   Yu, W M ^a   Hsiao, K J ^a  

^a NATIONAL YANG MING UNIVERSITY   (Taiwan)

Author keywords

[No Author keywords available]

Indexed keywords

5,6,7,8-TETRAHYDROBIOPTERIN; 6 PYRUVOYLTETRAHYDROPTERIN SYNTHASE; 6-PYRUVOYLTETRAHYDROPTERIN SYNTHASE; BIOPTERIN; DRUG DERIVATIVE; LYASE; MESSENGER RNA; TETRAHYDROBIOPTERIN;

ALLELE; ALTERNATIVE RNA SPLICING; ARTICLE; ASIAN; BIOSYNTHESIS; CAUCASIAN; CHINA; ENZYMOLOGY; ETHNOLOGY; EXON; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENETICS; GENOTYPE; HUMAN; MALE; METABOLISM; MISSENSE MUTATION; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; PHENOTYPE; PHENYLKETONURIA; RNA SPLICING; TAIWAN;

ALLELES; ALTERNATIVE SPLICING; ASIAN CONTINENTAL ANCESTRY GROUP; BIOPTERIN; CHINA; DNA MUTATIONAL ANALYSIS; EUROPEAN CONTINENTAL ANCESTRY GROUP; EXONS; FEMALE; FRAMESHIFT MUTATION; GENOTYPE; HUMANS; MALE; MUTATION; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; PHENYLKETONURIAS; PHOSPHORUS-OXYGEN LYASES; RNA SPLICE SITES; RNA, MESSENGER; SEQUENCE DELETION; TAIWAN;

EID: 0035229974     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.1153     Document Type: Article

References (0)