Recommendations for presymptomatic genetic testing and management of individuals at risk for hereditary transthyretin amyloidosis

PURPOSE OF REVIEW: These recommendations highlight recent experience in genetic counselling for the severe autosomal-dominant, late-onset transthyretin familial amyloid polyneuropathy (TTR-FAP) disease, and present a structured approach towards identification and monitoring of asymptomatic carriers...

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Detalles Bibliográficos
Autores principales: Obici, Laura, Kuks, Jan B., Buades, Juan, Adams, David, Suhr, Ole B., Coelho, Teresa, Kyriakides, Theodore
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2016
Materias:
Supplement Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4739313/
https://www.ncbi.nlm.nih.gov/pubmed/26734953
http://dx.doi.org/10.1097/WCO.0000000000000290

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