Hereditary haemorrhagic telangiectasia: a clinical and scientific review
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/ejhg200935.pdf
Reference63 articles.
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2. Kjeldsen AD, Vase P, Green A : Hereditary haemorrhagic telangiectasia: a population-based study of prevalence and mortality in Danish patients. J Intern Med 1999; 245: 31–39.
3. Snyder LH, Doan CA : Clinical and experimental studies in human inheritance: is the homozygous form of multiple telangiectasia lethal? J Lab Clin Med 1944; 29: 1211–1216.
4. Karabegovic A, Shinawi M, Cymerman U et al: No live individual homozygous for a novel endoglin mutation was found in a consanguineous Arab family with hereditary haemorrhagic telangiectasia. J Med Genet 2004; 41: e119.
5. El-Harith HA, Kuhnau W, Schmidtke J et al: Hereditary hemorrhagic telangiectasia is caused by the Q490X mutation of the ACVRL1 gene in a large Arab family: support of homozygous lethality. Eur J Med Genet 2006; 49: 323–330.
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