A mutation in the cystic fibrosis transmembrane conductance regulator gene associated with elevated sweat chloride concentrations in the absence of cystic fibrosis

By Mickle J.E.  

Human Molecular Genetics, Vol. 7, Iss. 4, 1998-04 ,pp. : 715-727

Oxford University Press

Access to resources Recommend Favorite

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

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

The testis anion transporter TAT1 (SLC26A8) physically and functionally interacts with the cystic fibrosis transmembrane conductance regulator channel: a potential role during sperm capacitation

By Rode Baptiste   Dirami Thassadite   Bakouh Naziha   Rizk-Rabin Marthe   Norez Caroline   Lhuillier Pierre   Lorès Patrick   Jollivet Mathilde   Melin Patricia   Zvetkova Ilona   Bienvenu Thierry   Becq Frédéric   Planelles Gabrielle   Edelman Aleksander   Gacon Gérard   Touré Aminata  

Human Molecular Genetics, Vol. 21, Iss. 6, 2012-03 ,pp. : 1287-1298

Oxford University Press

Access to resources Recommend Favorite

Rescue of neurodegeneration in Niemann–Pick C mice by a prion-promoter-driven Npc1 cDNA transgene

By Loftus S.K.  

Human Molecular Genetics, Vol. 11, Iss. 24, 2002-09 ,pp. : 3107-3114

Oxford University Press

Access to resources Recommend Favorite