Multiplex ligation-dependent probe amplification identification of 17 different beta-globin gene deletions (including four novel mutations) in the UK population.
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)...
Prif Awduron: | , , , , , , , |
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Fformat: | Journal article |
Iaith: | English |
Cyhoeddwyd: |
2009
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