Unexpected ABCC6 mRNA splicing in a Chinese family with pseudoxanthoma elasticum.
Qiao SunWeijun WangLifang WuLu ChengXuemei TongXun XuPublished in: Acta ophthalmologica (2018)
The genotype-phenotype correlation of PXE is poorly understood. The novel ABCC6 splicing mutation c.1177-2A>G results in multiple splicing patterns. Endogenous U2 to U12 conversion may occur in humans in a disease state. Peripheral blood mononuclear cells can be reliably used to study ABCC6 RNA.
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