Analysis of cellular proteins in achondroplasia by two-dimensional electrophoresis.
An abnormal protein pattern was found in cultured fibroblasts from three of seven patients with achondroplasia. All three patients showed two abnormal protein spots which were not detected in any of the normal and pathological cell strains examined in this study. Clinical manifestations of these three cases were compared with those of other cases, but no differences were identified between them from the data available at present. The significance of these protein spots were discussed.
Yang
R C
RC
Department of Pediatrics, Graduate Institute of Medicine, Kaohsiung Medical College, Taiwan, Republic of China.
D000130:Achondroplasia / Q000378:metabolism*; D000293:Adolescent; D000328:Adult; D002478:Cells, Cultured; D002648:Child; D002675:Child, Preschool; D004586:Electrophoresis; D005260:Female; D005347:Fibroblasts / Q000378:metabolism*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D011506:Proteins / Q000032:analysis*
D011506:Proteins