Characterization of the <i>LEPRE1</i> mutations and proband collagen.

<p>A: Patient II-3 <i>LEPRE1</i> transcripts are about one-half the control level, by real-time RT-PCR. B: Steady-state type I collagen protein from fibroblasts of Patient II-3 and a normal control is shown. In both the cell layer and media, overmodification, detected as back-streaking of collagen alpha chains (α1 (I) and α2 (I)) on gel electrophoresis, is present in Patient II-3. We also detected mild overmodification of type V collagen (α1 (V)). C: Western blots of fibroblast P3H1 in Patient II-3 and control cells confirm absence of intracellular P3H1. D: Immunofluorescent staining of fibroblasts from Patient II-3 and a normal control show colocalization of P3H1 and CRTAP with GRP94 in control cells. Both P3H1 and CRTAP proteins are absent in fibroblasts from Patient II-3.