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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Sparad:
Bibliografiska uppgifter
Huvudupphovsmän: 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.
Materialtyp: Artigo
Språk:Inglês
Publicerad: Ferrata Storti Foundation 2009
Ämnen:
Brief Reports
Länkar: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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