Dominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemia

Human Mutation

Volumn 13, Issue 4, 1999, Pages 286-289

  Scherer Oppliger, Tanja ^a   Matasovic, Ana ^a   Laufs, Stephanie ^a   Levy, Harvey L ^b   Quackenbush, Elisabeth J ^b   Blau, Nenad ^a   Thöny, Beat ^a  

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^b BOSTON CHILDREN S HOSPITAL   (United States)

Author keywords

6 pyruvoyltetrahydropterin synthase; Hyperphenylalaninemia; Tetrahydrobiopterin deficiency; Transient co expression

Indexed keywords

CATECHOLAMINE; COMPLEMENTARY DNA; DYSPROPTERIN; PHENYLALANINE; SEROTONIN; SYNTHETASE;

ALLELE; ANIMAL CELL; ARTICLE; CELL STRAIN COS1; CONTROLLED STUDY; DNA CONTENT; ENZYME DEFICIENCY; EXON; GENE MUTATION; GENETIC TRANSFECTION; HETEROZYGOTE; HUMAN; HYPERPHENYLALANINEMIA; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL;

ANIMALS; CHILD, PRESCHOOL; COS CELLS; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, DOMINANT; HETEROZYGOTE; HUMANS; MALE; PHENYLALANINE; PHOSPHORUS-OXYGEN LYASES; POLYMERASE CHAIN REACTION; TRANSFECTION;

ANIMALIA;

EID: 0033020992     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1999)13:4<286::AID-HUMU4>3.0.CO;2-C     Document Type: Article

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