Publications by authors named "Saiko Nishimaki"
J Hum Genet
December 2013
Article Synopsis
- - The study identified genetic rearrangements in the BMPR2 gene associated with pulmonary arterial hypertension (PAH), specifically through the deletion or duplication of its exons.
- - Researchers examined two familial PAH cases in Japan with exonic deletions, finding these were Alu-mediated through different recombination processes.
- - A report of a third case involved a 25-year-old female with a unique deletion of BMPR2 exon 3, which was not linked to Alu sequences and resulted in a 759-bp deletion, suggesting it could represent a novel genetic alteration distinct from previous cases.
