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Table 2 Mutation analysis of Chinese patients with LP

From: Treatment of lipoid proteinosis due to the p.C220G mutation in ECM1, a major allele in Chinese patients

Patient number Mutation position Mutation type Parents marriage Hospital location Ref.
Two siblings p.C220G Homozygous Unknown Xi’an Wang et al.[4]
Two siblings p.C220G; p.R476X Compound heterozygous Non-consanguineous Shanghai Wang et al.[5]
Two siblings p.C220G Homozygous Unknown Shanxi Han et al.[6]
One p.C477R* Homozygous Non -consanguineous Beijing Liu et al.[7]
One p.C220G Homozygous Non -consanguineous Xi’an This study
Total: 8 7 patients p.C220G     
  1. Notes: Additional 18 cases were clinically described as LP, but specific ECM1 mutations were not determined[8]. *According to the updated reference sequence (GenBank acc. no., NP_004416.2), the mutation should be named as p.C450R.