Article
Preimplantation diagnosis of cystic fibrosis by simultaneous detection of the W1282X and delta F508 mutations.
Human reproduction (Oxford, England) - 1 Sept 1994
Avner R, Laufer N, Safran A, Kerem B S, Friedmann A, Mitrani-Rosenbaum S
Abstract excerpt
W1282X (W) and delta F508 (delta) are the two most common mutations of the cystic fibrosis Israeli population. Patients who are homozygotes (WW and delta delta) as well as compound heterozygotes (W delta) present a severe phenotype of the disease. In the present study, we have developed a polymerase chain reaction (PCR)-based method for the detection of both mutations simultaneously in a single blastomere....
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