Severe alpha-1 antitrypsin deficiency in composite heterozygotes inheriting a new splicing mutation QOMadrid

This is an Open Access article distributed under the terms of the Creative Commons Attribution License.

Bibliographic Details
Authors: Lara, Beatriz, Martínez-Santiago, María Teresa, Blanco, Ignacio, Hernández-Moro, Cristina, Velasco, Eladio, Ferrarotti, Ilaria, Rodríguez-Frías, Francisco, Pérez, Laura, Vazquez, Irene, Alonso, Javier, Posada, Manuel, Martínez-Delgado, Beatriz
Format: article
Status:Published version
Publication Date:2014
Country:España
Institution:Consejo Superior de Investigaciones Científicas (CSIC)
Repository:DIGITAL.CSIC. Repositorio Institucional del CSIC
OAI Identifier:oai:digital.csic.es:10261/107555
Online Access:http://hdl.handle.net/10261/107555
Access Level:Open access
Keyword:Alpha-1 antitrypsin
Allelic variants
Null alleles
QO alleles
Splicing
Minigenes
Description
Summary:This is an Open Access article distributed under the terms of the Creative Commons Attribution License.