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Table 3 Unique heterozygous mutation in the CLCN7 gene found in the family

From: A novel missense mutation in the CLCN7 gene linked to benign autosomal dominant osteopetrosis: a case series

Samples Family member Mutation status of theCLCN7 gene C1255T (R409W)
1 Mother Wild type
2 Father Heterozygous
3 Daughter (index patient, Case 1) Heterozygous
4 Brother (mild carrier, Case 2) Heterozygous
5 Uncle Heterozygous
6 Aunt Wild type
7 Control Wild type