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Fig. 4 | BMC Medical Genetics

Fig. 4

From: Multimodal imaging in a pedigree of X-linked Retinoschisis with a novel RS1 variant

Fig. 4

a Sanger sequencing of RS1-exon 5 polymerase chain reaction (PCR) products from members of the pedigree. Top: Sanger sequencing result for affected male (ID#1392) showing a T nucleotide trace at sequencing position 208. Middle: Sanger sequencing result for carrier female (ID#1534) showing a heterozygous result at sequencing position 207, revealing traces from both signals of wild-type G allele and the mutant T allele. Bottom: Sanger sequencing result for unaffected male (ID#1634) showing a G nucleotide trace at sequencing trace position 208. b Clustal Omega results for protein alignment of reference RS1 protein sequence against the observed mutant protein sequence. “.” denotes the position of the substitution

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