Haplotype analysis of founder mutation p.E462V in Gujarati patients with Tay Sachs disease.
收藏Figshare2015-12-02 更新2026-04-29 收录
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(Al = allele).Region (a) = 417 bp region 3′ to HEXA gene (chromosome 15 plus strand: 72635626 to 72636042); region (b) = 405 bp region in intron 13 of HEXA gene (chromosome 15 plus strand: 72637019 to 72637423; and 567 bp region in intron 13 of HEXA gene (chromosome 15 plus strand: 72637428 to 72637994; region (c) = 489 bp region in intron 12 of HEXA gene (chromosome 15 plus strand:72638306 to 72638794); region (d) = 424 bp region in intron 5 of HEXA gene (chromosome 15 plus strand: 72639456 to 72639879); region (e) = 405 bp region in intron 1 of HEXA gene (chromosome 15 plus strand: 72656546 to 72656950 and 461 bp region in intron 1 of HEXA gene chromosome 15 plus strand: 72659130 to 72659590). The chromosome.coordinates are as per Human Genome Assembly Feb 2009 (GRCh37/hg19).
创建时间：
2015-12-02
