Article
Multiplex ligation-dependent probe amplification identification of 17 different beta-globin gene deletions (including four novel mutations) in the UK population.
Hemoglobin - 1 Jan 2009
Gallienne Alice E, Dréau Hélène M, McCarthy Janice, Timbs Adele T, Hampson Janet M, Schuh Anna, Old John M, Henderson Shirley J
Abstract excerpt
Large deletions of the beta-globin gene cluster are problematic to diagnose, and consequently the frequency and range of these mutations in the UK is unknown. Here we present a study evaluating the efficacy of the recently available technique of multiplex ligation-dependent prob amplification (MLPA) to determine the range and frequency of these deletions in the UK population. The results revealed a large deletion...
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