Mutation analysis and one novel mutation detection of 6-pyruvoyl tetrahydropterin synthase gene in children with tetrahydrobiopterin deficiency

Acta Academiae Medicinae Sinicae

Volumn 30, Issue 2, 2008, Pages 170-174

  Qu, Yu Jin ^a   Song, Fang ^a   Jin, Yu Wei ^a   Wang, Hong ^a  

^a CAPITAL INSTITUTE OF PEDIATRICS   (China)

Author keywords

6 pyruvoyl tetrahydropterin synthase gene; Hyperphenylalaninemia; Mutation analysis; Tetrahydrobiopterin deficiency

Indexed keywords

6 PYRUVOYLTETRAHYDROPTERIN SYNTHASE; TETRAHYDROBIOPTERIN;

ARTICLE; CHILD; CHINESE; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GENOTYPE; HUMAN; HYPERPHENYLALANINEMIA; MUTATIONAL ANALYSIS; PARENT; PATHOGENESIS; PROTEIN DEFICIENCY; PROTEIN STRUCTURE; RETROSPECTIVE STUDY; SEQUENCE ALIGNMENT; TETRAHYDROBIOPTERIN DEFICIENCY; URINALYSIS;

ASIAN CONTINENTAL ANCESTRY GROUP; BIOPTERIN; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; HUMANS; INFANT; INFANT, NEWBORN; MUTATION; PHENYLKETONURIAS; PHOSPHORUS-OXYGEN LYASES; POLYMERASE CHAIN REACTION;

EID: 44149117970     PISSN: 1000503X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (14)