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Endoplasmic reticulum quality control is involved in the mechanism of endoglin-mediated hereditary haemorrhagic telangiectasia.
PLoS One. 2011;6(10):e26206. doi: 10.1371/journal.pone.0026206. Epub 2011 Oct 14.
PLoS One. 2011.
PMID: 22022569
Free PMC article.
No live individual homozygous for a novel endoglin mutation was found in a consanguineous Arab family with hereditary haemorrhagic telangiectasia.
Karabegovic A, Shinawi M, Cymerman U, Letarte M.
Karabegovic A, et al.
J Med Genet. 2004 Nov;41(11):e119. doi: 10.1136/jmg.2004.022079.
J Med Genet. 2004.
PMID: 15520401
Free PMC article.
No abstract available.
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