A new deletion in autosomal dominant guanosine triphosphate cyclohydrolase I deficiency gene - Segawa disease

Journal of Neural Transmission

Volumn 113, Issue 2, 2006, Pages 159-162

  Bianca, S ^a,c   Bianca, M ^b  

^a ARNAS   (Italy)

^b UNIVERSITY OF CATANIA   (Italy)

^c ARNAS   (Italy)

Author keywords

GCH 1 gene; Hereditary Progressive Dystonia; Segawa disease

Indexed keywords

BENSERAZIDE PLUS LEVODOPA; CARBIDOPA PLUS LEVODOPA; GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I; LEVODOPA;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CLINICAL EXAMINATION; CLINICAL FEATURE; DYSTONIA; EXON; GENE DELETION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INTRON; ITALY; MALE; MUTATIONAL ANALYSIS; NEUROLOGIC EXAMINATION; NEUROPSYCHOLOGICAL TEST; PRIORITY JOURNAL; SEGAWA DISEASE; TREATMENT OUTCOME;

ADULT; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; DYSTONIA; GENE DELETION; GENES, DOMINANT; GENOTYPE; GTP CYCLOHYDROLASE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; PHENOTYPE;

EID: 31044443977     PISSN: 03009564     EISSN: 14351463     Source Type: Journal    
DOI: 10.1007/s00702-005-0308-2     Document Type: Article

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