Segawa syndrome due to mutation Q89X in the GCH1 gene: A possible founder effect in Córdoba (southern Spain)

Journal of Neurology

Volumn 256, Issue 11, 2009, Pages 1816-1824

  López Laso, Eduardo ^a   Ochoa Sepúlveda, Juan José ^b   Ochoa Amor, Juan José ^b   Bescansa Heredero, Enrique ^b   Camino León, Rafael ^a   Gascón Jiménez, Francisco Javier ^a   Mateos González, Maria Elena ^a   Pérez Navero, Juan Luis ^a   Lao Villadóniga, José Ignacio ^c   Ormazabal, Aida ^d   Artuch, Rafael ^d   Beyer, Katrin ^e  

^a UNIVERSITY OF CÓRDOBA   (Spain)

^b HOSPITAL UNIVERSITARIO REINA SOFÍA   (Spain)

^c Laboratorio de Analisis Dr Echevarne   (Spain)

^d UNIVERSITY OF BARCELONA   (Spain)

^e HOSPITAL UNIVERSITARI GERMANS TRIAS I PUJOL   (Spain)

Author keywords

Dopa responsive dystonia; Founder effect; GCH1 gene; Guanosine triphosphate cyclohydrolase I deficiency; Haplotype analysis

Indexed keywords

GLUTAMINE; GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I; MICROSATELLITE DNA;

ADULT; AGED; ARTICLE; CHILD; DYSTONIC DISORDER; FAMILY HEALTH; FEMALE; FOUNDER EFFECT; GENETICS; HUMAN; MALE; METHODOLOGY; MIDDLE AGED; NEUROLOGIC EXAMINATION; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; SINGLE STRAND CONFORMATION POLYMORPHISM; SPAIN;

ADULT; AGED; CHILD; DNA MUTATIONAL ANALYSIS; DYSTONIC DISORDERS; FAMILY HEALTH; FEMALE; FOUNDER EFFECT; GLUTAMINE; GTP CYCLOHYDROLASE; HUMANS; MALE; MICROSATELLITE REPEATS; MIDDLE AGED; NEUROLOGIC EXAMINATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SPAIN; YOUNG ADULT;

EID: 73449126291     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-009-5198-z     Document Type: Article

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