Next-generation sequencing reveals a new mutation in the LTBP2 gene associated with microspherophakia in a Spanish family

by Laura Alías, Jaume Crespi, Lidia González-Quereda, Jesús Téllez, Elisabeth Martínez, Sara Bernal, Ma Pia Gallano
Published 2018-05-01

High Mutational Heterogeneity, and New Mutations in the Human Coagulation Factor V Gene. Future Perspectives for Factor V Deficiency Using Recombinant and Advanced Therapies

by Sara Bernal, Irene Pelaez, Laura Alias, Manel Baena, Juan A. De Pablo-Moreno, Luis J. Serrano, M. Dolores Camero, Eduardo F. Tizzano, Ruben Berrueco, Antonio Liras
Published 2021-09-01