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Human Mutation|March 19, 2005
SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradationGulam Mustafa Saifi, Kinga Szigeti, Wojciech Wiszniewski, et al.Human Mutation|March 19, 2005
Gene conversion between functional trypsinogen genes PRSS1 and PRSS2 associated with chronic pancreatitis in a six-year-old girlNiels Teich, Zsófia Nemoda, Henrik Köhler, et al.Human Mutation|March 19, 2005
Bovine model of Marfan syndrome results from an amino acid change (c.3598G > A, p.E1200K) in a calcium-binding epidermal growth factor-like domain of fibrillin-1Annie C Singleton, Anna L Mitchell, Peter H Byers, et al.Human Mutation|April 21, 2005
Identification of novel GCK and HNF1A/TCF1 mutations and polymorphisms in German families with maturity-onset diabetes of the young (MODY)Dalia Toaima, Andrea Näke, Jutta Wendenburg, et al.Human Mutation|April 21, 2005
Identification and characterization of three large deletions and a deletion/polymorphism in the CFTR geneF Chevalier-Porst, G Souche, D BozonHuman Mutation|April 21, 2005
Identification of a novel frameshift mutation in the DFNB31/WHRN gene in a Tunisian consanguineous family with hereditary non-syndromic recessive hearing lossAbdelaziz Tlili, Ilhem Charfedine, Imed Lahmar, et al.Human Mutation|April 21, 2005
Characterization of a new disease-causing mutation of SH2D1A in a family with X-linked lymphoproliferative diseaseMelinda Erdõs, Eva Uzvölgyi, Zoltán Nemes, et al.Human Mutation|December 8, 2004
KCNJ11 activating mutations in Italian patients with permanent neonatal diabetesOrnella Massa, Dario Iafusco, Elena D'Amato, et al.Human Mutation|December 8, 2004
Breakpoint analysis of the pericentric inversion distinguishing human chromosome 4 from the homologous chromosome in the chimpanzee (Pan troglodytes)Hildegard Kehrer-Sawatzki, Catharina Sandig, Nadia Chuzhanova, et al.Human Mutation|December 8, 2004
DNMT3B mutations and DNA methylation defect define two types of ICF syndromeY L Jiang, M Rigolet, D Bourc'his, et al.Pageof 583