Figure 2: (a) Pedigree and haplotype analysis for the XP50NEF family. The disease haplotype is indicated by shading. m, mutant allele; N, normal allele; ND, not determined. (b) Clinical photograph of XP50NEF patient (1: melanoma; 2: angiogranuloma; 3: BCC). The sequence electropherogram of the sense strand in exon 6 of XPC gene showing the G>A substitution in homozygous state (a) in comparison with the wild type sequence (b) or in a heterozygous parent (c).