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Preimplantation genetic diagnosis for cystic fibrosis: a case report

Cystic fibrosis is an autosomal recessive disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator gene. This disorder produces a variable phenotype including lung disease, pancreatic insufficiency, and meconium ileus plus bilateral agenesis of the vas deferens causing...

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Detalles Bibliográficos
Autores principales: Biazotti, Maria Cristina Santoro, Pinto, Walter, de Albuquerque, Maria Cecília Romano Maciel, Fujihara, Litsuko Shimabukuro, Suganuma, Cláudia Haru, Reigota, Renata Bednar, Bertuzzo, Carmen Sílvia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Instituto de Ensino e Pesquisa Albert Einstein 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4946817/
https://www.ncbi.nlm.nih.gov/pubmed/25993078
http://dx.doi.org/10.1590/S1679-45082015RC2738

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