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Fig. 4 | BMC Ophthalmology

Fig. 4

From: Whole-exome sequencing reveals a novel CHM gene mutation in a family with choroideremia initially diagnosed as retinitis pigmentosa

Fig. 4

Sanger sequencing chromatography of the c.1475_1476insCA mutation in choroideremia-associated gene (CHM). No mutations were found in 2 healthy family members, III-5 and IV-3. Red bar indicates the inserted CA nucleotides in CHM gene of proband IV-2, another affected male IV-5 and a female carrier III-2. Black bar indicates the mixed sequencing behind the insertion site in the hemizygous CHM mutation carrier III-2

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