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Medium-sized deletion in the BRCA1 gene: Limitations of Sanger sequencing and MLPA analyses
We describe a family with a history of breast and ovarian cancer in which MLPA analysis of the BRCA1 gene pointed to a deletion including a part of exon 11. Further characterization confirmed a loss of 374 bp in a region completely covered by conventional sequencing which had not revealed the deleti...
Autores principales: | Herman, Sandra, Varga, Dominic, Deissler, Heidrun L., Kreienberg, Rolf, Deissler, Helmut |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Sociedade Brasileira de Genética
2012
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3313516/ https://www.ncbi.nlm.nih.gov/pubmed/22481874 |
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