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Proceedings of the National Academy of Sciences of the United States of America|August 1, 1992
Similarity of spontaneous germinal and in vitro somatic cell mutation rates in humans: implications for carcinogenesis and for the role of exogenous factors in "spontaneous" germinal mutagenesisR D Kuick, J V Neel, J R Strahler, et al.Nature Genetics|September 6, 2000
Identification of the gene causing mucolipidosis type IVR Bargal, N Avidan, E Ben-Asher, et al.Human Mutation|April 24, 2001
Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish populationR Bargal, N Avidan, T Olender, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 8, 2001
Clinical-biochemical correlation in molecularly characterized patients with Niemann-Pick type CV Meiner, S Shpitzen, H Mandel, et al.Clinical Genetics|October 1, 2010
Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversityM F Coutinho, M Encarnação, R Gomes, et al.Pageof 2