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Figure 2 Mutation detection in FDCM 066. (A) Denaturing high performance liquid chromatography (DHPLC) of exon 10 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 G base substitution at position 1056. (C) Pedigree of family FDCM 066 showing the nucleotides identified at 1056. The arrow identifies the proband.





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