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Human Mutation|February 5, 2000
A common beta ig-h3 gene mutation (delta f540) in a large cohort of Sardinian Reis Bücklers corneal dystrophy patients. Mutations in brief no. 180. OnlineC Rozzo, M Fossarello, G Galleri, et al.Human Mutation|February 12, 2000
A novel mutation of the down-regulated in adenoma gene in a Japanese case with congential chloride diarrhea. Mutations in brief no. 198. OnlineY Etani, S Mushiake, H Tajiri, et al.Human Mutation|February 12, 2000
Mutations of the human tyrosinase gene associated with tyrosinase related oculocutaneous albinism (OCA1). Mutations in brief no. 204. OnlineW S Oetting, J P Fryer, R A KingHuman Mutation|January 8, 2000
Three novel RDS-peripherin mutations (689delT, 857del17, G208D) in Spanish families affected with autosomal dominant retinal degenerations. Mutations in brief no. 147. OnlineM J Trujillo, J Bueno, A Osorio, et al.Human Mutation|January 8, 2000
Identification of a new SCN5A mutation, D1840G, associated with the long QT syndrome. Mutations in brief no. 153. OnlineJ Benhorin, M Goldmit, J W MacCluer, et al.Human Mutation|January 8, 2000
A new glucose 6 phosphate dehydrogenase variant G6PD Sinnai (34 G-->T). Mutations in brief no. 156. OnlineR Galanello, D Loi, C Sollaino, et al.Human Mutation|September 8, 1999
6th International HUGO Mutation Database Meeting, March 27, 1999, Brisbane, AustraliaO Horaitis, R G CottonHuman Mutation|September 8, 1999
TP53 mutation and haplotype analysis of two large African American familiesJ Hung, B Mims, G Lozano, et al.Human Mutation|September 8, 1999
Identification of 12 novel mutations and two new polymorphisms in the arylsulfatase A gene: haplotype and genotype-phenotype correlation studies in Spanish metachromatic leukodystrophy patientsL Gort, M J Coll, A ChabásPageof 583