When is a mutation not a mutation: the case of the c.594-2A>C splice variant in a woman harbouring another BRCA1 mutation in trans

Since the identification of BRCA1 there has only ever been described two bi-allelic mutation carriers, one of whom was subsequently shown to be a mono-allelic carrier. The second patient diagnosed with two BRCA1 mutations appears to be accurate but there remain some questions about the missense vari...

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Detalles Bibliográficos
Autores principales: Wong-Brown, Michelle, McPhillips, Mary, Gleeson, Margaret, Spigelman, Allan D., Meldrum, Cliff J., Dooley, Susan, Scott, Rodney J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4754916/
https://www.ncbi.nlm.nih.gov/pubmed/26884819
http://dx.doi.org/10.1186/s13053-015-0045-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4754916/
https://www.ncbi.nlm.nih.gov/pubmed/26884819
http://dx.doi.org/10.1186/s13053-015-0045-y

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