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2000 | 1 |
2001 | 1 |
2024 | 0 |
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Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel.
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
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