Figure 4 of Ruberto, Mol Vis 2021; 27:107-116.

Figure 4. Long- and short-range PCRs spanning the two mutations. A: Long-range PCR on DNA from members of family MOL0931 and four controls. Only deletion-carrying alleles output a PCR product, as for wild-type alleles the distance between the primers used is too long to result in any amplification. B: “Diagnostic” short-range PCR in members of both families, as well as five control individuals. The rationale for the presence or absence of a PCR product is the same as that explained for panel A.