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pro vyhledávání: '"W. Nancy de Vries"'
Autor:
Wouter J. de Wet, Petrus J. Pretorius, Mary K. Wirtz, W. Nancy de Vries, Velidi H. Rao, David W. Hollister, Robert W. Glanville, Michael E. Labhard
Publikováno v:
Connective tissue research. 29(1)
The molecular basis for Osteogenesis Imperfecta in a large kindred with a highly variable phenotype was identified by sequencing the mutant pro alpha 1 (I) protein, cDNA and genomic DNA from the proband. Fibroblasts from different affected individual