Two new β-thalassemia deletions compromising prenatal diagnosis in an Italian and a Turkish couple seeking prevention

When the molecular background of couples requesting prevention is unclear, family analysis and tools to define rare mutations are essential. We report two novel deletion defects observed in an Italian and in a Turkish couple. The first proband presented with microcytic hypochromic parameters without...

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Detalhes bibliográficos
Main Authors: Phylipsen, Marion, Amato, Antonio, Cappabianca, Maria Pia, Traeger-Synodinos, Jan, Kanavakis, Emmanuel, Basak, Nazli, Galanello, Renzo, Tuveri, Teresa, Ivaldi, Giovanni, Harteveld, Cornelis L., Giordano, Piero C.
Formato: Artigo
Idioma:Inglês
Publicado em: Ferrata Storti Foundation 2009
Assuntos:
Brief Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2738722/
https://ncbi.nlm.nih.gov/pubmed/19734421
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3324/haematol.2009.007989
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