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Compound Heterozygosity for Silent and Dominant Glycine Substitution Mutations in COL7A1 Leads to a Marked Transient Intracytoplasmic Retention of Procollagen VII and a Moderately Severe Dystrophic Epidermolysis Bullosa Phenotype
Shimizu, Hiroshi, Hammami-Hauasli, Nadja, Hatta, Naohito, Nishikawa, Takeji, Bruckner-Tuderman, LeenaVolume:
113
Language:
english
Journal:
Journal of Investigative Dermatology
DOI:
10.1046/j.1523-1747.1999.00713.x
Date:
September, 1999
File:
PDF, 188 KB
english, 1999