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Table 1 Summary of Mutations in HOXC13 in Families with Pure Hair and Nail Ectodermal Dysplasia

From: The inconsistent regulation of HOXC13 on different keratins and the regulation mechanism on HOXC13 in cashmere goat (Capra hircus)

Author Nucleotide change Amino acid change Ethnicity Zygosity Consanguinity
Lin et al., 2012 [33] c.390C > A p.Tyr130* Chinese Homozygous Consanguineous
Lin et al., 2012 [33] Microdeletion (chr12: 54,308, 194–54, 335, 815) Deletion of exon 1 Afghan Homozygous Consanguineous
Farooq et al., 2013 [35] c.355delC p.Leu119Trpfs*20 Syrian Homozygous Consanguineous
Ali et al., 2013[34] c.200-203dupGCCA p.His68Glnfs*84 Pakistani Homozygous Consanguineous
Ali et al., 2013[34] c.404C > A p.Ser135* Pakistani Homozygous Consanguineous
Li et al., 2017[37] c.812A > G p.Gln271Arg Hispanic Homozygous Consanguineous
Khan al, 2017[36] c.929A > C p.Asn310Thr Pakistani Homozygous Consanguineous