Identification of novel variants in ten patients with Hermansky-Pudlak syndrome by high-throughput sequencing
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J. Hernández-Rivas | Jorge Oliveira | J. González-Porras | M. Karkucak | V. Vicente | Rosário Santos | R. Benito | C. Lau | J. M. Bastida | A. Marín-Quilez | K. Janusz | M. Martín-Izquierdo | J. Rivera | Sara Morais | J. Padilla | Mónica Pereira | M. Lima | N. Bermejo | M. Trapero‐Marugán | V. Palma-Barqueros | Natalia S. Bohdan | Y. Yucel | Eduarda Couto | Juan Francisco Ruiz-Pividal | Maria Luisa Lozano | J. Oliveira | A. Marín-Quílez | J. Bastida