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Fig. 4 | Eye and Vision

Fig. 4

From: Clinical exome sequencing facilitates the understanding of genetic heterogeneity in Leber congenital amaurosis patients with variable phenotype in southern India

Fig. 4

Sequence chromatogram and segregation analysis of mutations identified by this study. a Autosomal recessive pattern – Chromatogram shows the homozygous peak in the proband and heterozygous peak in carriers (parents and siblings). The affected sibling of AS06 (II:3) has a homozygous peak; b Autosomal dominant pattern of inheritance – Heterozygous peak in affected proband and mother, wild-type peak in control and other family members (father and sibling). The red box and black arrow indicate the altered nucleic acids

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Eye and Vision

ISSN: 2326-0254