Open AccessVariation 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,
Lluís 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 Sobczyńska-Tomaszewska,
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