Confirmation of the c.451_452insGACT (p.Tyr151*) insertion mutation of <i>CRYGD</i>.

Abstract

<p>(A) Sequence chromatogram showing the heterozygous c.451_452insGACT insertion mutation of <i>CRYGD</i> in the proband. The mutation was numbered according to GenBank NM_006891.3. (B) Polyacrylamide gel electrophoresis showing different sizes of the PCR fragments in the pedigree. The 134 bp and 130 bp fragments were amplified from affected and unaffected chromosome, respectively. (C) Protein alignment of mammalian samples showing that the regions around the mutation are highly conserved. Numbers on left and right indicate the position of this fragment. The position of the mutant is marked by a black triangle.</p

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