Clinical and Analytical Sensitivities in Hereditary Hemorrhagic Telangiectasia Testing and a Report of de Novo Mutations

Hereditary hemorrhagic telangiectasia is a vascular dysplasia with variable onset and expression. Through identification of a mutation in a proband, mutation testing can be offered to family members. Mutation carriers can receive medical surveillance and treatment before potentially fatal complicati...

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Detalhes bibliográficos
Main Authors: Gedge, Friederike, McDonald, Jamie, Phansalkar, Amit, Chou, Lan-Szu, Calderon, Fernanda, Mao, Rong, Lyon, Elaine, Bayrak-Toydemir, Pinar
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Investigative Pathology 2007
Assuntos:
Regular Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1867450/
https://ncbi.nlm.nih.gov/pubmed/17384219
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2353/jmoldx.2007.060117
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