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Results 1 - 10 of 15  for Great Falls College MSU

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Interaction between calcium-activated chloride channels and the cystic fibrosis transmembrane conductance regulator

Wei, L. ; Vankeerberghen, A. ; Cuppens, H. ; Eggermont, J. ; Cassiman, J.-J. ; Droogmans, G. ; Nilius, B.

Pflügers Archiv, 1999, Vol.438(5), pp.635-641 [Peer Reviewed Journal]

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Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype

Alston, Charlotte l ; Compton, Alison g ; Formosa, Luke e ; Strecker, Valentina ; Oláhová, Monika ; Haack, Tobias b ; Smet, Joél ; Stouffs, Katrien ; Diakumis, Peter ; Ciara, Elżbieta ; Cassiman, David ; Romain, Nadine

The American Journal of Human Genetics, 07 July 2016, Vol.99(1), pp.217-227 [Peer Reviewed Journal]

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Suppressive interactions between mutations located in the two nucleotide binding domains of CFTR.

Wei, L ; Vankeerberghen, A ; Jaspers, M ; Cassiman, J ; Nilius, B ; Cuppens, H Wei, L (correspondence author) ; Wei, L (record owner)

FEBS letters, May 12, 2000, Vol.473(2), pp.149-153 [Peer Reviewed Journal]

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Phosphorylation site independent single R-domain mutations affect CFTR channel activity.

Wei, L ; Vankeerberghen, A ; Cuppens, H ; Droogmans, G ; Cassiman, J J ; Nilius, B Wei, L (correspondence author) ; Wei, L (record owner)

FEBS letters, November 13, 1998, Vol.439(1-2), pp.121-126 [Peer Reviewed Journal]

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Characterization of mutations located in exon 18 of the CFTR gene.

Vankeerberghen, A ; Wei, L ; Teng, H ; Jaspers, M ; Cassiman, J J ; Nilius, B ; Cuppens, H Vankeerberghen, A (correspondence author) ; Vankeerberghen, A (record owner)

FEBS letters, October 16, 1998, Vol.437(1-2), pp.1-4 [Peer Reviewed Journal]

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Severe alport phenotype in a woman with two missense mutations in the same COL4A5 gene and preponderant inactivation of the X chromosome carrying the normal allele.

Guo, C ; Van Damme, B ; Vanrenterghem, Y ; Devriendt, K ; Cassiman, J J ; Marynen, P Guo, C (correspondence author) ; Guo, C (record owner)

The Journal of clinical investigation, April 1995, Vol.95(4), pp.1832-1837 [Peer Reviewed Journal]

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Differential splicing of COL4A5 mRNA in kidney and white blood cells: a complex mutation in the COL4A5 gene of an Alport patient deletes the NC1 domain.

Guo, C ; Van Damme, B ; Van Damme-Lombaerts, R ; Van Den Berghe, H ; Cassiman, J J ; Marynen, P Guo, C (correspondence author) ; Guo, C (record owner)

Kidney international, December 1993, Vol.44(6), pp.1316-1321 [Peer Reviewed Journal]

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Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation.

Cuppens, H ; Lin, W ; Jaspers, M ; Costes, B ; Teng, H ; Vankeerberghen, A ; Jorissen, M ; Droogmans, G ; Reynaert, I ; Goossens, M ; Nilius, B ; Cassiman, J J Cuppens, H (correspondence author) ; Cuppens, H (record owner)

The Journal of clinical investigation, January 15, 1998, Vol.101(2), pp.487-496 [Peer Reviewed Journal]

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Predominance of beta-catenin mutations and beta-catenin dysregulation in sporadic aggressive fibromatosis (desmoid tumor).

Tejpar, S ; Nollet, F ; Li, C ; Wunder, J S ; Michils, G ; Dal Cin, P ; Van Cutsem, E ; Bapat, B ; van Roy, F ; Cassiman, J J ; Alman, B A Tejpar, S (correspondence author) ; Tejpar, S (record owner)

Oncogene, November 11, 1999, Vol.18(47), pp.6615-6620 [Peer Reviewed Journal]

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Recommendations of the 2006 Human Variome Project meeting

Cotton, Richard G. H. ; Participants Of The 2006 Human Variome Project Meeting ; Appelbe, William ; Auerbach, Arleen D ; Becker, Kevin ; Bodmer, Walter ; Boone, D Joe ; Boulyjenkov, Victor ; Brahmachari, Samir ; Brody, Lawrence ; Brookes, Anthony ; Brown, Alastair F ; Byers, Peter ; Maria Cantu, Jose ; Cassiman, Jean - Jacques ; Claustres, Mireille ; Concannon, Patrick ; Cotton, Richard G H ; Den Dunnen, Johan T ; Flicek, Paul ; Gibbs, Richard ; Hall, Judith ; Hasler, Julia ; Katz, Michael ; Kwok, Pui - Yan ; Laradi, Sandrine ; Lindblom, Annika ; Maglott, Donna ; Marsh, Steven ; Masimirembwa, Collen Muto ; Minoshima, Shinsei ; De Ramirez, Ana Maria Oller ; Pagon, Roberta ; Ramesar, Raj ; Ravine, David ; Richards, Sue ; Rimoin, David ; Ring, Huijun Z ; Scriver, Charles R ; Sherry, Stephen ; Shimizu, Nobuyoshi ; Stein, Lincoln ; Tadmouri, Ghazi Omar ; Taylor, Graham ; Watson, Michael

Nature Genetics, April, 2007, Vol.39(4), p.433(4) [Peer Reviewed Journal]

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