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Items: 2

1.

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.

J Mol Diagn. 2009 Nov;11(6):569-75. doi: 10.2353/jmoldx.2009.080148. Epub 2009 Sep 18.

2.

Molecular diagnosis in hereditary hemorrhagic telangiectasia: findings in a series tested simultaneously by sequencing and deletion/duplication analysis.

McDonald J, Damjanovich K, Millson A, Wooderchak W, Chibuk JM, Stevenson DA, Gedge F, Bayrak-Toydemir P.

Clin Genet. 2011 Apr;79(4):335-44. doi: 10.1111/j.1399-0004.2010.01596.x. Epub 2010 Dec 16.

PMID:
21158752

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