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Year | Number of Results |
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1999 | 1 |
2004 | 1 |
2015 | 1 |
2024 | 0 |
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Molecular analysis of cystinosis: probable Irish origin of the most common French Canadian mutation.
Eur J Hum Genet. 1999 Sep;7(6):671-8. doi: 10.1038/sj.ejhg.5200349.
Eur J Hum Genet. 1999.
PMID: 10482956
CTNS mutations in publicly-available human cystinosis cell lines.
Zykovich A, Kinkade R, Royal G, Zankel T.
Zykovich A, et al.
Mol Genet Metab Rep. 2015 Oct 27;5:63-66. doi: 10.1016/j.ymgmr.2015.10.007. eCollection 2015 Dec.
Mol Genet Metab Rep. 2015.
PMID: 28649545
Free PMC article.
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Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin.
Kalatzis V, Nevo N, Cherqui S, Gasnier B, Antignac C.
Kalatzis V, et al.
Hum Mol Genet. 2004 Jul 1;13(13):1361-71. doi: 10.1093/hmg/ddh152. Epub 2004 May 5.
Hum Mol Genet. 2004.
PMID: 15128704
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