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Hereditary hemorrhagic telangiectasia: two distinct ENG deletions in one family.
Clin Genet. 2010 Nov;78(5):484-9. doi: 10.1111/j.1399-0004.2010.01418.x.
Clin Genet. 2010.
PMID: 20412114
Multiple sequence variants in hereditary hemorrhagic telangiectasia cases: illustration of complexity in molecular diagnostic interpretation.
McDonald J, Gedge F, Burdette A, Carlisle J, Bukjiok CJ, Fox M, Bayrak-Toydemir P.
McDonald J, et al. Among authors: bukjiok cj.
J Mol Diagn. 2009 Nov;11(6):569-75. doi: 10.2353/jmoldx.2009.080148. Epub 2009 Sep 18.
J Mol Diagn. 2009.
PMID: 19767588
Free PMC article.
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