Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?

Por Pasmant, Eric, Parfait, Béatrice, Luscan, Armelle, Goussard, Philippe, Briand-Suleau, Audrey, Laurendeau, Ingrid, Fouveaut, Corinne, Leroy, Chrystel, Montadert, Annelore, Wolkenstein, Pierre, Vidaud, Michel, Vidaud, Dominique
Publicado no Eur J Hum Genet (2015)

First description of ABCB4 gene deletions in familial low phospholipid-associated cholelithiasis and oral contraceptives-induced cholestasis

Por Pasmant, Eric, Goussard, Philippe, Baranes, Laetitia, Laurendeau, Ingrid, Quentin, Samuel, Ponsot, Philippe, Consigny, Yann, Farges, Olivier, Condat, Bertrand, Vidaud, Dominique, Vidaud, Michel, Chen, Jian-Min, Parfait, Béatrice
Publicado em 2012