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COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets.
Hum Mol Genet. 2012 Oct 15;21(R1):R97-110. doi: 10.1093/hmg/dds346. Epub 2012 Aug 21.
Hum Mol Genet. 2012.
PMID: 22914737
Free PMC article.
Review.
COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke.
Jeanne M, Labelle-Dumais C, Jorgensen J, Kauffman WB, Mancini GM, Favor J, Valant V, Greenberg SM, Rosand J, Gould DB.
Jeanne M, et al.
Am J Hum Genet. 2012 Jan 13;90(1):91-101. doi: 10.1016/j.ajhg.2011.11.022. Epub 2011 Dec 29.
Am J Hum Genet. 2012.
PMID: 22209247
Free PMC article.
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