Article
SERPINB7 mutation causes Nagashima-type palmoplantar keratosis and its spatiotemporal expression in zebrafish.
Experimental dermatology - 1 Jun 2023
Lyu Chen, Zhang Fan, Liu Tingting, Yu Gongqi, Ge Kangkang, Chen Shengli, Sheng Donglai, Sun Yonghu
Abstract excerpt
Serine protease inhibitor B7 (SERPINB7) mutations have been reported to cause Nagashima-type palmoplantar keratosis (NPPK), but their biological effects are largely unknown. We conducted whole-exome sequencing and identified a c.796C>T (p.Arg266Ter) mutation in SERPINB7 in a Chinese pedigree, which presented as an autosomal recessive inheritance pattern. We assessed the function of SERPINB7 in homozygous and...
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