Authors: Montse Bernat, Esther Titos and Joan Cl� ria
We describe the application of two different fluorescence- based techniques (ddNTP primer extension and single-strand conformation polymorphism (SSCP)) to the detection of single nucleotide polymorphisms (SNPs) by capillary electrophoresis. The ddNTP primer extension technique is based on the extension, in the presence of fluo.. Read More»
Authors: Cristina Pungartnik, Jaqueline Picada, Martin Brendel and Jo�£o A.P. Henriques
The sensitivity responses of seven pso mutants of Saccharomyces cerevisiae towards the mutagens N-nitrosodiethylamine (NDEA), 1,2:7,8-diepoxyoctane (DEO), and 8-hydroxyquinoline (8HQ) further substantiated their allocation into two distinct groups: genes PSO1 (allelic to REV3), PSO2 (SNM1), PSO4 (PRP19), and PSO5 (RAD16) const.. Read More»
Authors: Gerardo Luzardo, Isabel Aznarez, Beatriz Crispino, Adriana Mimbacas, Liria MartÃ?Ânez, Rossana Poggio, Julian Zielenski, Lap-Chee Tsui and Horacio Cardoso
We conducted clinical and genetic analyses of 52 cystic fibrosis (CF) patients in Uruguay, which is about half of the known affected individuals in the country. A relatively high proportion had a mild presentation, characterized by pancreatic sufficiency (28%), a strong pulmonary component (97%), and borderline sweat electroly.. Read More»