Fig. 3 | Genetics in Medicine

Fig. 3

From: A founder COL17A1 splice site mutation leading to generalized atrophic benign epidermolysis bullosa in an extended inbred Palestinian family from Israel

Fig. 3

Linkage and mutation analysis of COL17A1. a, COL17A1/10q linkage analysis and direct sequencing results for the family members tested. Disease allele is boxed. b, Detection of the homozygous splice site mutation IVS51+1G>A by direct nucleotide sequencing. Affected individuals are homozygous A at donor splice site +1, compared with heterozygous A/G carriers, and normal G homozygotes. The exon/intron boundary is marked.

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