Article
Molecular insights into the mechanism of nonrecurrent F8 structural variants: Full breakpoint characterization and bioinformatics of DNA elements implicated in the upmost severe phenotype in hemophilia A.
Human mutation - 1 Apr 2020
Abelleyro Miguel Martín, Radic Claudia Pamela, Marchione Vanina Daniela, Waisman Karen, Tetzlaff Tomas, Neme Daniela, Rossetti Liliana Carmen, De Brasi Carlos Daniel
Abstract excerpt
Hemophilia A (HA) provides excellent models to analyze genotype-phenotype relationships and mutational mechanisms. NhF8ld's breakpoints were characterized using case-specific DNA-tags, direct- or inverse-polymerase chain reaction amplification, and Sanger sequencing. DNA-break's stimulators (n = 46), interspersed repeats, non-B-DNA, and secondary structures were analyzed around breakpoints versus null hypotheses...
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