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. 2003 Nov 18;73(6):1341–1354. doi: 10.1086/380309

Figure 4.

Figure 4

A, Pedigree of family P13, with sequence corresponding to the proline→leucine mutation (left to right): unrelated control individual, mother (II:1), index patient (III:2), and brother of the index patient (III:1). For the potentially affected female cousin (individual III-4) (indicated with an asterisk [*]), no clinical data are available. Affected nucleotides are indicated with black arrows. B, Pedigree for family P42, with sequence chromatograms indicating the splice-site mutation in affected individuals (left to right): father (I:1), mother (I:2), index patient (II:1), and mildly affected sister (II:2). Uppercase letters indicate coding sequence; affected nucleotides are indicated with black arrows.