AF287270[Secondary Source ID] - Search Results

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Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel.

Sun M, Goldin E, Stahl S, Falardeau JL, Kennedy JC, Acierno JS Jr, Bove C, Kaneski CR, Nagle J, Bromley MC, Colman M, Schiffmann R, Slaugenhaupt SA. Sun M, et al. Hum Mol Genet. 2000 Oct 12;9(17):2471-8. doi: 10.1093/hmg/9.17.2471. Hum Mol Genet. 2000. PMID: 11030752

Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population.

Bargal R, Avidan N, Olender T, Ben Asher E, Zeigler M, Raas-Rothschild A, Frumkin A, Ben-Yoseph O, Friedlender Y, Lancet D, Bach G. Bargal R, et al. Hum Mutat. 2001 May;17(5):397-402. doi: 10.1002/humu.1115. Hum Mutat. 2001. PMID: 11317355

Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population.

Edelmann L, Dong J, Desnick RJ, Kornreich R. Edelmann L, et al. Am J Hum Genet. 2002 Apr;70(4):1023-7. doi: 10.1086/339519. Epub 2002 Feb 13. Am J Hum Genet. 2002. PMID: 11845410 Free PMC article.

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