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Human Mutation|December 29, 1999
MEFV mutations in Turkish patients suffering from Familial Mediterranean FeverN Akar, M Misiroglu, F Yalcinkaya, et al.
Human Mutation|January 29, 2000
First mutation (S340X) in choroideremia gene in a Spanish family. Mutations in brief no. 173. OnlineM J Trujillo, R Sanz, M Rodriguez de Alba, et al.
Human Mutation|February 5, 2000
Characterization of ten novel and 13 recurring BRCA1 and BRCA2 germline mutations in Italian breast and/or ovarian carcinoma patients. Mutations in brief no. 178. OnlineV M De Benedetti, P Radice, B Pasini, et al.
Human Mutation|February 5, 2000
Truncating somatic mutation in exon 15 of the APC gene is a rare event in human breast carcinomas. Mutations in brief no. 179. OnlineT Sørlie, I Bukholm, A L Børresen-Dale
Human Mutation|February 5, 2000
18 bp insertion/duplication with internal missense mutation in human hepatic lipase gene exon 3. Mutations in brief no. 181. OnlineO Tiebel, S Gehrisch, J Pietzsch, et al.
Human Mutation|February 5, 2000
Compound heterozygosity for a new (S259G) and a previously described (G188E) mutation in lipoprotein lipase (LpL) as a cause of chylomicronemia. Mutations in brief no. 183. OnlineD Evans, D Wendt, S Ahle, et al.
Human Mutation|February 5, 2000
Molecular analysis of northwestern Mexican patients with cystic fibrosis: screening of 10 known mutations. Mutations in brief no. 185. OnlineS E Flores-Martínez, M Dean, R K Saiki, et al.
Human Mutation|February 5, 2000
The minisatellite expansion mutation in EPM1: resolution of an initial discrepancy. Mutatations in brief no. 186. OnlineK Virtaneva, L Paulin, R Krahe, et al.
Human Mutation|February 5, 2000
Laminin 5 genes and Herlitz junctional epidermolysis bullosa: novel mutations and polymorphisms in the LAMB3 and LAMC2 genes. Mutations in brief no. 190. OnlineA Kon, L Pulkkinen, M Hara, et al.
Human Mutation|February 5, 2000
T426I a new mutation in the thyroid hormone receptor beta gene in a sporadic patient with resistance to thyroid hormone and dysmorphism. Mutations in brief no. 192. OnlineC Menzaghi, R Di Paola, A Corrias, et al.
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