Characterization of 19 disease-associated missense mutations in the regulatory domain of the cystic fibrosis transmembrane conductance regulator

By Wei L.  

Human Molecular Genetics, Vol. 7, Iss. 11, 1998-11 ,pp. : 1761-1769

Oxford University Press

Access to resources Recommend Favorite

Mutations in the beta-subunit of the epithelial Na + channel in patients with a cystic fibrosis-like syndrome

By Sheridan Molly B.  

Human Molecular Genetics, Vol. 14, Iss. 22, 2005-11 ,pp. : 3493-3498

Oxford University Press

Access to resources Recommend Favorite

Characterization of disease-associated mutations affecting an exonic splicing enhancer and two cryptic splice sites in exon 13 of the cystic fibrosis transmembrane conductance regulator gene

By Aznarez I.  

Human Molecular Genetics, Vol. 12, Iss. 16, 2003-08 ,pp. : 2031-2040

Oxford University Press

Access to resources Recommend Favorite

Analysis of the Polymorphic Markers within the CFTR Gene in Cystic Fibrosis Patients and Healthy Donors from Bashkortostan

By Korytina G. F.   Victorova T. V.   Ivashchenko T. E.   Baranov V. S.   Khusnutdinova E. K.  

Russian Journal of Genetics, Vol. 39, Iss. 11, 2003-11 ,pp. : 1306-1312

MAIK Nauka/Interperiodica

Access to resources Recommend Favorite

Assessing the Potential Success of Cystic Fibrosis Carrier Screening: Lessons Learned from Tay-Sachs Disease and β-Thalassemia

By  

Public Health Genomics, Vol. 13, Iss. 5, 2009-10 ,pp. : 310-319

Karger

Access to resources Recommend Favorite