GTP-cyclohydrolase I gene mutations in patients with autosomal dominant and recessive GTP-CH1 deficiency: Identification and functional characterization of four novel mutations

Journal of Inherited Metabolic Disease

Volumn 27, Issue 4, 2004, Pages 455-463

  Garavaglia, B ^a   Invernizzi, F ^a   Carbone, M L Agostoni ^b   Viscardi, V ^b   Saracino, F ^b   Ghezzi, D ^a   Zeviani, M ^a   Zorzi, G ^a   Nardocci, N ^a  

^a DEPARTMENT OF NEUROSURGERY   (Italy)

^b UNIVERSITY OF MILAN   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

5 HYDROXYTRYPTOPHAN; CARBIDOPA PLUS LEVODOPA; GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I; LEVODOPA; TETRAHYDROBIOPTERIN; TRIHEXYPHENIDYL;

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; CHROMOSOME 14Q; CLINICAL ARTICLE; CLINICAL FEATURE; CORRELATION ANALYSIS; DYSTONIA; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; FRAMESHIFT MUTATION; FUNGAL STRAIN; GENE FUNCTION; GENE MUTATION; GENE STRUCTURE; GENETIC COMPLEMENTATION; HUMAN; IN VIVO STUDY; ITALY; LOW DRUG DOSE; MALE; MISSENSE MUTATION; PARKINSONISM; PATHOGENESIS; PENETRANCE; PHENOTYPE; SACCHAROMYCES CEREVISIAE; SEQUENCE HOMOLOGY; STOMACH PAIN;

ADULT; FEMALE; FRAMESHIFT MUTATION; GTP CYCLOHYDROLASE; HUMANS; MALE; MUTAGENESIS, SITE-DIRECTED; MUTATION; MUTATION, MISSENSE; POLYMERASE CHAIN REACTION; SACCHAROMYCES CEREVISIAE;

EID: 4344580488     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/B:BOLI.0000037349.08483.96     Document Type: Article

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