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Identification of a highly polymorphic microsatellite VNTR within the argininosuccinate synthetase locus: exclusion of the dystonia gene on 9q32-34 as the cause of dopa-responsive dystonia in a large kindred.
Kwiatkowski DJ, Nygaard TG, Schuback DE, Perman S, Trugman JM, Bressman SB, Burke RE, Brin MF, Ozelius L, Breakefield XO, et al. Kwiatkowski DJ, et al. Among authors: brin mf. Am J Hum Genet. 1991 Jan;48(1):121-8. Am J Hum Genet. 1991. PMID: 1985454 Free PMC article.
Human gene for torsion dystonia located on chromosome 9q32-q34.
Ozelius L, Kramer PL, Moskowitz CB, Kwiatkowski DJ, Brin MF, Bressman SB, Schuback DE, Falk CT, Risch N, de Leon D, et al. Ozelius L, et al. Among authors: brin mf. Neuron. 1989 May;2(5):1427-34. doi: 10.1016/0896-6273(89)90188-8. Neuron. 1989. PMID: 2576373
259 results