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Human Mutation|April 24, 1999
Polymorphisms in the coding exons of the human luteinizing hormone receptor gene. Mutations in brief no. 124. OnlineS M Wu, M Jose, K Hallermeier, et al.Human Mutation|April 24, 1999
Independent occurrence of the novel Arg2163 to His mutation in the factor VIII gene in three unrelated families with haemophila A with different phenotypes. Mutations in brief no. 126. OnlineB D Theophilus, M S Enayat, M Higuchi, et al.Human Mutation|April 29, 1999
Mutations of the human BTK gene coding for bruton tyrosine kinase in X-linked agammaglobulinemiaM Vihinen, S P Kwan, T Lester, et al.Human Mutation|April 29, 1999
Co-segregation of MEN2 and Hirschsprung's disease: the same mutation of RET with both gain and loss-of-function?M Takahashi, T Iwashita, M Santoro, et al.Human Mutation|July 17, 1999
Three homozygous PTC mutations in the collagen type VII gene of patients affected by recessive dystrophic epidermolysis bullosa: analysis of transcript levels in dermal fibroblastsR Gardella, N Zoppi, S Ferraboli, et al.Human Mutation|July 17, 1999
Four novel mutations in the cystathionine beta-synthase gene: effect of a second linked mutation on the severity of the homocystinuric phenotypeR de Franchis, E Kraus, V Kozich, et al.Human Mutation|July 17, 1999
Temperature and pH effects on single-strand conformation polymorphism analysis by capillary electrophoresisJ Ren, P M UelandHuman Mutation|March 27, 1999
Screening for mutations of the APC gene in 66 Italian familial adenomatous polyposis patients: evidence for phenotypic differences in cases with and without identified mutationM Giarola, L Stagi, S Presciuttini, et al.Human Mutation|March 27, 1999
Identification of twenty-one new mutations in the factor IX gene by SSCP analysisJ M Montejo, M Magallón, E Tizzano, et al.Pageof 583