MUC1 Makes Me Miserable
- PMID: 30120109
- PMCID: PMC6115660
- DOI: 10.1681/ASN.2018070742
MUC1 Makes Me Miserable
Keywords: adtkd; genetic renal disease; mucin.
Comment on
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Biallelic Expression of Mucin-1 in Autosomal Dominant Tubulointerstitial Kidney Disease: Implications for Nongenetic Disease Recognition.J Am Soc Nephrol. 2018 Sep;29(9):2298-2309. doi: 10.1681/ASN.2018030245. Epub 2018 Jul 26. J Am Soc Nephrol. 2018. PMID: 30049680 Free PMC article.
References
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- Christodoulou K, Tsingis M, Stavrou C, Eleftheriou A, Papapavlou P, Patsalis PC, et al. : Chromosome 1 localization of a gene for autosomal dominant medullary cystic kidney disease. Hum Mol Genet 7: 905–911, 1998 - PubMed
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- Yamamoto S, Kaimori JY, Yoshimura T, Namba T, Imai A, Kobayashi K, et al. : Analysis of an ADTKD family with a novel frameshift mutation in MUC1 reveals characteristic features of mutant MUC1 protein. Nephrol Dial Transplant 32: 2010–2017, 2017 - PubMed
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