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

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

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Oxford University Press

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Incomplete Rescue of Cystic Fibrosis Transmembrane Conductance Regulator Deficient Mice by the Human CFTR cDNA

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Human Molecular Genetics, Vol. 6, Iss. 7, 1997-07 ,pp. : 1153-1162

Oxford University Press

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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

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Characterization of six human disease-associated inversion polymorphisms

By Antonacci Francesca   Kidd Jeffrey M.   Marques-Bonet Tomas   Ventura Mario   Siswara Priscillia   Jiang Zhaoshi   Eichler Evan E.  

Human Molecular Genetics, Vol. 18, Iss. 14, 2009-07 ,pp. : 2555-2566

Oxford University Press

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