TITLE = {A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis},
AUTHOR = {Arnaud, Pauline and Racine, Caroline and Hanna, Nadine and Thevenon, Julien and Alessandri, Jean-Luc and Bonneau, Dominique and Clayton-Smith, Jill and Coubes, Christine and Delobel, Bruno and Dupuis-Girod, Sophie and Gouya, Laurent and Odent, Sylvie and Carmignac, Virginie and Thauvin-Robinet, Christel and Le Goff, Carine and Jondeau, Guillaume and Boileau, Catherine and Faivre, Laurence},
URL = {https://hal-univ-rennes1.archives-ouvertes.fr/hal-02500544},
JOURNAL = {Human Genetics},
PUBLISHER = {Springer Verlag},
VOLUME = {139},
NUMBER = {4},
PAGES = {461-472},
YEAR = {2020},
DOI = {10.1007/s00439-019-02102-9},
HAL_ID = {hal-02500544},
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