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Preimplantation genetic diagnosis using combined strategies on a breast cancer patient with a novel genomic deletion in BRCA2

PURPOSE: To perform Preimplantation Genetic Diagnosis (PGD) on a paternal Brca2 unknown mutation carrier with early-onset breast cancer, whose paternal grandmother and mother had breast cancer at 60s. METHOD: Elucidating the linkage via single sperm haplotyping on patient's carrier brother, and...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Veröffentlicht in:J Assist Reprod Genet
Hauptverfasser: Wang, Qingxue, Chow, Judy FC, Yeung, William SB, Lau, Estella YL, Lee, Vivian CY, Ng, Ernest HY, Ho, Pak-Chung
Format: Artigo
Sprache:Inglês
Veröffentlicht: Springer US 2014
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4250453/
https://ncbi.nlm.nih.gov/pubmed/25304112
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10815-014-0355-4
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