Article
Two novel mutations at exon 8 of the Sequestosome 1 (SQSTM1) gene in an Italian series of patients affected by Paget's disease of bone (PDB).
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Jun 2004
Falchetti Alberto, Di Stefano Marco, Marini Francesca, Del Monte Francesca, Mavilia Carmelo, Strigoli Debora, De Feo Maria L, Isaia Giovan, Masi Laura, Amedei Antonietta, Cioppi Federica, Ghinoi Valentina, Bongi Susanna Maddali, Di Fede Giuseppina, Sferrazza Carmela, Rini Giovan B, Melchiorre Daniela, Matucci-Cerinic Marco, Brandi Maria L
Abstract excerpt
UNLABELLED: PDB is genetically heterogeneous. Mutations of the sequestosome1 gene have been reported in sporadic and familial forms of Paget's in patients of French Canadian and British descent. Mutational analyses in different ethnic groups are needed to accurately investigate hereditary diseases. We describe two novel mutations of sequestosome1 in 62 Italian sporadic patients, confirming the role of the encoded...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.