https://www.selleckchem.com/products/cx-5461.html
Namaqualand hip dysplasia (NHD) is a mild form of spondyloepiphyseal dysplasia in which progressive arthropathy of the hip joint is a major manifestation. The disorder was documented in a multigenerational South African (SA) family with antecedents from Namaqualand, a region in the north-west of the country. Linkage analysis revealed a locus that includes the collagen type II gene, COL2A1. To identify the pathogenic COL2A1 variant causing NHD in an SA family. One affected male with a clear diagnosis of NHD was selected for whole-exome s
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