Analysis of a cohort of 101 CDAII patients: description of 24 new molecular variants and genotype-phenotype correlations

Paola Bianchi, Klaus Schwarz, Josef Högel, Elisa Fermo, Cristina Vercellati, Regine Grosse, Richard van Wijk, Rob van Zwieten, Wilma Barcellini, Alberto Zanella, Hermann Heimpel

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Medicine & Life Sciences