Could Kalydeco benefit 621+1G>T?
"Some splicing mutations (621+1G->T, 1717-1G->A,1078delT, 711+1G->T, 1525-1G->A, 2751+2T->A, 296+1G->C, 1717-9T->C from (C. Castellani et al. / Journal of Cystic Fibrosis 7 (2008) 179–196) , even if categorized in the severe Class I, may be able to produce some aberrant/incorrect CFTR. This difference distinguishes those defects from the stop mutations that are also in Class I." Read more here: http://www.cftrsplicing.com/page.php?7
Pilot Study Testing the Effect of Ivacaftor on Lung Function in Subjects With Cystic Fibrosis and Residual CFTR Function: This study is a multiple within subject crossover study to evaluate the effect of ivacaftor on lung function in subjects aged 12 years and older with cystic fibrosis (CF) who have phenotypic or molecular evidence of residual CF transmembrane conductance regulator (CFTR) function. Read more here: http://www.clinicaltrials.gov/ct2/show/nct01685801
Pumpkin Pictures 2015 - Every year (since Bennett was just a year old), I have taken pictures of the kids outside with a pumpkin in October. I love getting to see how much they ...
2 weeks ago