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Non-invasive prenatal diagnosis of beta-thalassemia by semiconductor sequencing: a feasibility study in the sardinian population

β-Thalassemia is the most common autosomal recessive single-gene disorder in Sardinia, where approximately 10.3% of the population is a carrier. Prenatal diagnosis is carried out at 12 weeks of gestation via villocentesis and is commonly aimed at ascertaining the presence or absence of the HBB varia...

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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Saba, Luisella, Masala, Maddalena, Capponi, Valentina, Marceddu, Giuseppe, Massidda, Matteo, Rosatelli, Maria Cristina
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2017
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5437905/
https://ncbi.nlm.nih.gov/pubmed/28272531
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2017.26
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