The silent mutation nucleotide 744 G → A, Lys172Lys, in exon 6 of BRCA2 results in exon skipping
نویسندگان
چکیده
منابع مشابه
Prediction of single-nucleotide substitutions that result in exon skipping: identification of a splicing silencer in BRCA1 exon 6.
Missense, nonsense, and translationally silent mutations can inactivate genes by altering the inclusion of mutant exons in mRNA, but their overall frequency among disease-causing exonic substitutions is unknown. Here, we have tested missense and silent mutations deposited in the BRCA1 mutation databases of unclassified variants for their effects on exon inclusion. Analysis of 21 BRCA1 variants ...
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ژورنال
عنوان ژورنال: Breast Cancer Research and Treatment
سال: 2009
ISSN: 0167-6806,1573-7217
DOI: 10.1007/s10549-009-0359-4