Article
Large genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative method.
Cancer research - 1 Apr 2003
Hogervorst Frans B L, Nederlof Petra M, Gille Johan J P, McElgunn Cathal J, Grippeling Maartje, Pruntel Roelof, Regnerus Rein, van Welsem Tibor, van Spaendonk Resie, Menko Fred H, Kluijt Irma, Dommering Charlotte, Verhoef Senno, Schouten Jan P, van't Veer Laura J, Pals Gerard
Abstract excerpt
We applied a novel method to detect single or multiple exon deletions and amplifications in the BRCA1 gene. The test, called multiplex ligation-dependent probe amplification (MLPA), uses probes designed to hybridize adjacently to the target sequence. After ligation, the joined probes are amplified and quantified. Our two diagnostic laboratories have tested in the recent years 805 families by conventional...
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