Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene

  title={Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene},
  author={Lucy Osborne and George Santis and Martin J Schwarz and Katherine Klinger and Thilo D{\"o}rk and I Mcintosh and Marianne Schwartz and Virginia Nunes and Jochen Reiss and W. Edward Highsmith and Robert R. McMahon and Giuseppe Novelli and Naseem Malik and Joachim B{\"u}rger and Maria Anvret and Andrew Wallace and Carolyn Williams and Christopher Mathew and Rima Rozen and Colin Graham and Paolo Gasparini and Jerzy Bal and J. J. Cassiman and Angeliki Balassopoulou and Lance S Davidow and S Raskin and Luborodna Kalaydjieva and Bat-sheva Kerem and Sandra Richards and Brigitte Simon-Bouy and Maurice Super and Ulrich Wulbrand and Morton Keston and Xavier Estivill and Věra V{\'a}vrov{\'a} and Kenneth J. Friedman and David K. Barton and Bruno Dallapiccola and Manfred Stuhrmann and Frances Beards and Alison M. Hill and Pier Franco Pignatti and Harry Cuppens and Dora Angelicheva and Burkhard T{\"u}mmler and David J. H. Brock and Teresa Casals and Milan Macek and Joerg Schmidtke and Alex C. Magee and Alberto Bonizzato and Chris De Boeck and A. Kuffardjieva and Margaret Hodson and Raymond A Knight},
  journal={Human Genetics},
The N1303K mutation was identified in the second nucleotide binding fold of the cystic fibrosis (CF) gene last year. We have gathered data from laboratories throughout Europe and the United States of America in order to estimate its frequency and to attempt to characterise the clinical manifestations of this mutation. N1303K, identified on 216 of nearly 15000 CF chromosomes tested, accounts for 1.5% of all CF chromosomes. The frequency of the N1303K allele varies significantly between countries… CONTINUE READING

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A termination mutation (W1282X), the most common mutation in the Jewish Ashkenazi CF patients in Israel, is associated with a severe disease presentation

T Shoshani, N Bashan, +4 authors B Kerem
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MB White, LJ Krueger, +10 authors M Dean
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