Bibliografia 2789+5G>A

 

 

Highsmith WE Jr, Burch LH, Zhou Z, Olsen JC, Strong TV, Smith T, Friedman KJ, Silverman LM, Boucher RC, Collins FS, Knowles MR. Identification of a splice site mutation (2789+5G>A) associated with small amounts of normal CFTR mRNA and mild cystic fibrosis. Hum Mutat. 1997;9(4):332-8.

 

Dork T, Dworniczak B, Aulehla-Scholz C, Wieczorek D, Bohm I, Mayerova A, Seydewitz HH, Nieschlag E, Meschede D, Horst J, Pander HJ, Sperling H, Ratjen F, Passarge E, Schmidtke J, Stuhrmann M. Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens. Hum Genet. 1997 Sep;100(3-4):365-77.