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Table 2 Familial co-segregation analysis of the proband

From: A novel pathogenic mutation of the CYP27B1 gene in a patient with vitamin D-dependent rickets type 1: a case report

Gene(s) Filtering model Location of alteration Alteration Proband Mother Father
CYP27B1 Autosomal recessive 12q13.1-q13.3 c.1510C > T(p.Q504X) Homozygous Heterozygous Heterozygous