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Human Mutation|December 19, 2009
Pathogenic mutations cause rapid degradation of lysosomal storage disease-related membrane protein CLN6Anna-Katherina Kurze, Giovanna Galliciotti, Claudia Heine, et al.Human Mutation|November 10, 2005
Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27AUdo Zur Stadt, Karin Beutel, Susanne Kolberg, et al.Human Mutation|November 16, 2005
High proportion of large genomic STK11 deletions in Peutz-Jeghers syndromeStefan Aretz, Dietlinde Stienen, Siegfried Uhlhaas, et al.Human Mutation|November 16, 2005
Younger birth cohort correlates with higher breast and ovarian cancer risk in European BRCA1 mutation carriersRegina Kroiss, Verena Winkler, Diana Bikas, et al.Human Mutation|November 16, 2005
Identification of genetic aberrations on chromosome 22 outside the NF2 locus in schwannomatosis and neurofibromatosis type 2Patrick G Buckley, Kiran K Mantripragada, Teresita Díaz de Ståhl, et al.Human Mutation|November 16, 2005
Germline mutations of the MSR1 gene in prostate cancer families from GermanyChristiane Maier, Zorica Vesovic, Natascha Bachmann, et al.Human Mutation|January 1, 1993
Homology-mediated recombination between type I collagen gene exons results in an internal tandem duplication and lethal osteogenesis imperfectaD H Cohn, X Zhang, P H ByersHuman Mutation|December 2, 2005
Functional polymorphisms in dopamine and serotonin pathway genesUrsula M D'Souza, Ian W CraigHuman Mutation|December 6, 2005
Low frequency of PDCD10 mutations in a panel of CCM3 probands: potential for a fourth CCM locusChristina L Liquori, Michel J Berg, Ferdinando Squitieri, et al.Human Mutation|December 6, 2005
Novel mutations in the human sucrase-isomaltase gene (SI) that cause congenital carbohydrate malabsorptionPetra Sander, Marwan Alfalah, Markus Keiser, et al.Pageof 583