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Variation in a Repeat Sequence Determines Whether a Common Variant of the Cystic Fibrosis Transmembrane Conductance Regulator Gene Is Pathogenic or Benign
Author(s) -
Joshua D. Groman,
Timothy Hefferon,
Teresa Casals,
L. Bassas,
Xavier Estivill,
Marie des Georges,
Caroline Guittard,
Monika Koudová,
M. Daniele Fallin,
Krisztiémeth,
György Fekete,
L Kádasi,
Ken Friedman,
Martin Schwarz,
Cristina Bombieri,
Pier Franco Pignatti,
Emmanuel Kanavakis,
Maria Tzetis,
Marianne Schwartz,
Giuseppe Novelli,
Maria Rosaria D’Apice,
Agnieszka SobczyńskaTomaszewska,
Jerzy Bal,
Manfred Stuhrmann,
Milan Maçek,
Mireille Claustres,
Garry R. Cutting
Publication year - 2004
Publication title -
carolina digital repository (university of north carolina at chapel hill)
Language(s) - English
DOI - 10.17615/3dq7-rw27
Subject(s) - cystic fibrosis transmembrane conductance regulator , regulator , transmembrane protein , sequence (biology) , gene , cystic fibrosis , conductance , genetics , biology , computational biology , medicine , mathematics , combinatorics , receptor

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