X-inactivation modifies disease severity in female carriers of murine X-linked Alport syndrome

Background. Female carriers of X-linked Alport syndrome (XLAS) demonstrate variability in clinical phenotype that, unlike males, cannot be correlated with genotype. X-inactivation, the method by which females (XX) silence transcription from one X chromosome in order to achieve gene dosage parity wit...

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Hlavní autoři: Rheault, Michelle N., Kren, Stefan M., Hartich, Linda A., Wall, Melanie, Thomas, William, Mesa, Hector A., Avner, Philip, Lees, George E., Kashtan, Clifford E., Segal, Yoav
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2010
Témata:
Clinical Nephrology
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2902925/
https://ncbi.nlm.nih.gov/pubmed/19854849
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/ndt/gfp551
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