Spectrum of FANCA mutations in Italian Fanconi anemia patients: identification of six novel alleles and phenotypic characterization of the S858R variant.

Maria Savino, Adriana Borriello, Maria D'Apolito, Maria Criscuolo, Maria Del Vecchio, Anna Monica Bianco, Michele Di Perna, Rita Calzone, Bruno Nobili, Adriana Zatterale, Leopoldo Zelante, Hans Joenje, Fulvio Della Ragione, Anna Savoia

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Medicine & Life Sciences