Seven mutations in the human insulin gene linked to permanent neonatal/infancy-onset diabetes mellitus
J. Clin. Invest. Carlo Colombo, et al. 118:2148 doi:10.1172/JCI33777 [Go to this article.]

Figure 1
Family trees of patients carrying INS gene mutations. Pherograms of the mutations are also shown, with mutations indicated by black arrows. The mutation causing diabetes in kindred D, L^B15Y^B16delinsH, was determined by subcloning of the PCR product and DNA sequencing, confirmed in 10 clones. Mutations L^B11P and Y^A19X, which respectively introduce HpaII and SpeI restriction sites, were both confirmed (white arrows) by RFLP-PCR. n, normal allele; m, mutant allele; p, proband. Patients carrying mutations are denoted by filled symbols.