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Awareness and motives for use and non-use of preimplantation genetic diagnosis in familial amyloid polyneuropathy mutation carriers

  • Published:2014-05-13 Issue:9 Volume:34 Page:886-892
  • ISSN:0197-3851
  • Container-title:Prenatal Diagnosis
  • language:en
  • Short-container-title:Prenat Diagn

Author:

Valdrez Kátia12,Silva Susana13,Coelho Teresa2,Alves Elisabete13

Affiliation:

1. Department of Clinical Epidemiology, Predictive Medicine and Public Health; University of Porto Medical School; Porto Portugal

2. Unidade Clínica de Paramiloidose; Centro Hospitalar do Porto; Porto Portugal

3. Institute of Public Health; University of Porto (ISPUP); Porto Portugal

Funder

Fundação para a Ciência e a Tecnologia

Publisher

Wiley

Subject

Genetics (clinical),Obstetrics and Gynecology

Reference31 articles.

1. Screening and biochemical characterization of transthyretin variants in the Portuguese population;Alves;Hum Mutat,1997

2. Portuguese-type amyloidosis (transthyretin amyloidosis, ATTR V30M);Lobato;J Nephrol,2003

3. Clinical and therapeutic implications of presymptomatic gene testing for familial amyloidotic polyneuropathy (FAP);Sales-Luis;Amyloid,2003

4. Epidemiologia Genética da Polineuropatia Amiloidótica Familiar;Sousa;Sinapse,2006

5. Preimplantation genetic diagnosis for familial amyloidotic polyneuropathy (FAP);Carvalho;Prenat Diagn,2001
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