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Genetic testing experiences and genetics knowledge among families with inherited metabolic diseases

We surveyed individuals with inherited metabolic diseases (IMDs) or their caregivers to explore experiences with genetic testing. Pursuit of knowledge, benefit to science, clinician recommendations, cascade testing, and cost were important considerations for pursuing genetic testing. Knowledge about...

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Detalles Bibliográficos
Autores principales: Kenneson, Aileen, Youngborg, Lauren, Singh, Rani H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7398965/
https://www.ncbi.nlm.nih.gov/pubmed/32775212
http://dx.doi.org/10.1016/j.ymgmr.2020.100633