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Figure 3 Mutation detection in FDCM/INLVM 065. (A) Denaturing high performance liquid chromatography (DHPLC) analysis of exon 4 identifies an abnormal DHPLC pattern in the proband (top panel) that is absent in controls (bottom panel). (B) The deoxyribonucleic acid (DNA) sequence analysis of genomic DNA identifies a C to T base substitution at position 587. (C) Pedigree of family FDCM/INLVM 065. The arrow identifies the proband. (D) Blast homology analysis of Cypher/ZASP amino acid sequence for residue S196.
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