Literature DB >> 15952991

A CFTR mutation (D1152H) in a family with mild lung disease and normal sweat chlorides.

W E Highsmith, K J Friedman, L H Burch, A Spock, L M Silverman, R C Boucher, M R Knowles.   

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Year:  2005        PMID： 15952991     DOI： 10.1111/j.1399-0004.2005.00459.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  2 in total

1.  A comparative study of five technologically diverse CFTR testing platforms.

Authors:  Monique A Johnson; Marvin J Yoshitomi; C Sue Richards
Journal:  J Mol Diagn       Date:  2007-07       Impact factor: 5.568

2.  Mechanisms of CFTR functional variants that impair regulated bicarbonate permeation and increase risk for pancreatitis but not for cystic fibrosis.

Authors:  Jessica LaRusch; Jinsei Jung; Ignacio J General; Michele D Lewis; Hyun Woo Park; Randall E Brand; Andres Gelrud; Michelle A Anderson; Peter A Banks; Darwin Conwell; Christopher Lawrence; Joseph Romagnuolo; John Baillie; Samer Alkaade; Gregory Cote; Timothy B Gardner; Stephen T Amann; Adam Slivka; Bimaljit Sandhu; Amy Aloe; Michelle L Kienholz; Dhiraj Yadav; M Michael Barmada; Ivet Bahar; Min Goo Lee; David C Whitcomb
Journal:  PLoS Genet       Date:  2014-07-17       Impact factor: 5.917
  2 in total

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