Assessing the Impact of Novel <i>BRCA1</i> Exon 11 Variants on Pre-mRNA Splicing.

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作者： Halla,Elshwekh ^[1] ; Inas M,Alhudiri ^[2] ; Adam,Elzagheid ^[2] ; Nabil,Enattah ^[2] ; Yasmine,Abbassi ^[3] ; Lubna,Abou Assali ^[3] ; Ilenia,Marino ^[4] ; Cristiana,Stuani ^[3] ; Emanuele,Buratti ^[3] ; Maurizio,Romano ^[5]

作者单位： International Centre for Genetic Engineering and Biotechnology, Padriciano 99, 34149 Trieste, Italy.;Department of Genetic Engineering, Libyan Biotechnology Research Center, Tripoli P.O. Box 30313, Libya. ^[1] Department of Genetic Engineering, Libyan Biotechnology Research Center, Tripoli P.O. Box 30313, Libya. ^[2] International Centre for Genetic Engineering and Biotechnology, Padriciano 99, 34149 Trieste, Italy. ^[3] International Centre for Genetic Engineering and Biotechnology, Padriciano 99, 34149 Trieste, Italy.;Faculty of Medicine, University of Southampton, Southampton SO17 1BJ, UK. ^[4] Department of Life Sciences, University of Trieste, Via A. Valerio, 28, 34127 Trieste, Italy. ^[5]

关键词 BRCA1 S1064S V340A V788G breast cancer c.1019T>C c.2363T>G c.3192T>C exon 11 functional genetics germline mutations loss of heterozygosity splicing

主题词人类(Humans);外显子(Exons);BRCA1蛋白质(BRCA1 Protein);RNA前体(RNA Precursors);RNA剪接(RNA Splicing);乳腺肿瘤(Breast Neoplasms);女(雌)性(Female);细胞系, 肿瘤(Cell Line, Tumor);突变(Mutation);选择性剪接(Alternative Splicing);疾病遗传易感性(Genetic Predisposition to Disease)

DOI 10.3390/cells13100824

PMID 38786046

发布时间 2025-01-21

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2024年13卷10期

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Assessing the Impact of Novel <i>BRCA1</i> Exon 11 Variants on Pre-mRNA Splicing.

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Assessing the Impact of Novel <i>BRCA1</i> Exon 11 Variants on Pre-mRNA Splicing.

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