Miguel Chill�n
Duran i Reynals Hospital(ES)
Publications by Year
Research Areas
Cystic Fibrosis Research Advances, Neonatal Respiratory Health Research, Tracheal and airway disorders, Congenital Heart Disease Studies, Blood Coagulation and Thrombosis Mechanisms
Most-Cited Works
- → Extensive analysis of 40 infertile patients with congenital absence of the vas deferens: in 50% of cases only one CFTR allele could be detected(1995)113 cited
- → Analysis of the CFTR gene confirms the high genetic heterogeneity of the Spanish population: 43 mutations account for only 78% of CF chromosomes(1994)73 cited
- → A rare DNA variant in exon 15 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene(1992)6 cited
- → Acceptor splice site mutation in the invariant AG of intron 5 of the protein C gene, causing type I protein C deficiency(1993)5 cited