Figure 4From: Treatment of lipoid proteinosis due to the p.C220G mutation in ECM1, a major allele in Chinese patients Pedigree and sequencing result. A. Pedigree of the family: the filled box represents the affected child, open box or circle with a dot, the heterozygote parents. B. Homozygous mutation c.658T > G (p.C220G) of ECM1 exon 6 of the patient. C. Heterozygous mutation of the same position of his parent. D. Normal DNA sequence of ECM1 exon 6.Back to article page