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Human Mutation|December 24, 2002
Identification of 36 novel Jagged1 (JAG1) mutations in patients with Alagille syndromeAlbrecht Röpke, Annegret Kujat, Mechthild Gräber, et al.Human Mutation|December 24, 2002
Splice mutations in the p53 gene: case report and review of the literatureR Holmila, C Fouquet, J Cadranel, et al.Human Mutation|January 11, 2000
Ten novel BRCA1 and BRCA2 mutations in breast and/or ovarian cancer families from northern GermanyM Kiechle, E Gross, U Schwarz-Boeger, et al.Human Mutation|January 11, 2000
Frameshift mutations with severe and moderate clinical phenotypes in Thai hemophilia A patientsV Akkarapatumwong, S Intorasoot, S Oranwiroon, et al.Human Mutation|May 15, 2002
Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screeningJoseph L Bobadilla, Milan Macek, Jason P Fine, et al.Human Mutation|May 15, 2002
Arab genetic disease database (AGDDB): a population-specific clinical and mutation databaseAhmad S Teebi, Saeed A Teebi, Christopher J Porter, et al.Human Mutation|May 15, 2002
Propionic acidemia: analysis of mutant propionyl-CoA carboxylase enzymes expressed in Escherichia coliMaja Chloupkova, Kenneth N Maclean, Asem Alkhateeb, et al.Human Mutation|May 15, 2002
High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine beta-synthase (CBS) mutationsKenneth N Maclean, Mette Gaustadnes, Jana Oliveriusová, et al.Human Mutation|May 15, 2002
Molecular analysis of the APC gene in 71 Israeli families: 17 novel mutationsNancy Gavert, Yuval Yaron, Tova Naiman, et al.Pageof 583