A novel locus for autosomal recessive primary torsion dystonia (DYT17) maps to 20p11.22-q13.12

Neurogenetics

Volumn 9, Issue 4, 2008, Pages 287-293

  Chouery, E ^a,b   Kfoury, J ^a   Delague, V ^c   Jalkh, N ^a   Bejjani, P ^d   Serre, J L ^b   Megarbane A ^a,e  

^a SAINT JOSEPH UNIVERSITY   (Lebanon)

^b LABORATOIRE DES SCIENCES DU CLIMAT ET DE L ENVIRONNEMENT   (France)

^c AIX MARSEILLE UNIVERSITY   (France)

^d Notre Dame des Secours Hospital   (Lebanon)

^e Saint Joseph University   (France)

Author keywords

Dopamine; Dystonia; GABA; Homozygosity mapping; Lod score

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE INHERITANCE; CHROMOSOME 20; CHROMOSOME 20P; CHROMOSOME 20Q; CHROMOSOME MAP; CLINICAL ARTICLE; CONSANGUINITY; FEMALE; GENE; GENE IDENTIFICATION; GENE MAPPING; GENE SEQUENCE; GENOME; HAPLOTYPE; HOMOZYGOSITY; HUMAN; LEBANON; LINKAGE ANALYSIS; LOCUS CERULEUS; MICROSATELLITE MARKER; PRIORITY JOURNAL; TORSION DYSTONIA; X CHROMOSOME LINKED DISORDER;

ADULT; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 20; CONSANGUINITY; CYTOSKELETAL PROTEINS; DYSTONIA MUSCULORUM DEFORMANS; FEMALE; GENES, RECESSIVE; HAPLOTYPES; HOMOZYGOTE; HUMANS; LEBANON; LOD SCORE; MALE; MEMBRANE PROTEINS; MICROSATELLITE REPEATS; NEUROPEPTIDES; PEDIGREE; RECEPTORS, SOMATOSTATIN; VESICULAR INHIBITORY AMINO ACID TRANSPORT PROTEINS;

EID: 52749087100     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10048-008-0142-4     Document Type: Article

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