Fig. 4From: A homozygous missense variant in HSD17B4 identified in a consanguineous Chinese Han family with type II Perrault syndromeSanger sequences of the mutation in HSD17B4 in the affected sisters and their parents. The position of the G > T transition, which led to alanine to serine substitution, was indicated by an arrow. The mutation could be found in heterozygous parents (III5 and III6) and affected patients (IV1 and IV2)Back to article page