Isolated central form of tetrahydrobiopterin deficiency associated with hemizygosity on chromosome 11q and a mutant allele of PTPS

Human Mutation

Volumn 16, Issue 1, 2000, Pages 54-60

  Blau, Nenad ^a   Scherer Oppliger, Tanja ^a   Baumer, Alessandra ^b   Riegel, Mariluce ^b   Matasovic, Ana ^a   Schinzel, Albert ^b   Jaeken, Jaak ^c   Thöny, Beat ^a  

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^b UNIVERSITY OF ZURICH   (Switzerland)

^c UNIVERSITY OF LEUVEN   (Belgium)

Author keywords

6 pyruvoyl tetrahydropterin synthase; Hemizygosity; Hyperphenylalaninemia; Neurotransmitter deficiency; PTPS; PTS; Tetrahydrobiopterin deficiency

Indexed keywords

6 PYRUVOYLTETRAHYDROPTERIN SYNTHASE; TETRAHYDROBIOPTERIN;

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 11Q; ENZYME DEFICIENCY; FEMALE; GENE LOCATION; GENE MUTATION; HEMIZYGOSITY; HUMAN; PRESCHOOL CHILD; PRIORITY JOURNAL;

ALLELES; BIOPTERIN; BLOTTING, WESTERN; CELLS, CULTURED; CHILD; CHROMOSOMES, HUMAN, PAIR 11; DNA MUTATIONAL ANALYSIS; FEMALE; HAPLOTYPES; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; LYMPHOCYTES; MALE; MICROSATELLITE REPEATS; MUTATION; PEDIGREE; PHENOTYPE; PHENYLKETONURIAS; PHOSPHORUS-OXYGEN LYASES; POLYMORPHISM, GENETIC; XYY KARYOTYPE;

EID: 0033948869     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/1098-1004(200007)16:1<54::AID-HUMU10>3.0.CO;2-C     Document Type: Article

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