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Compound heterozygosity for premature termination codon and glycine substitution mutations in the COL7A1 gene in Korean siblings with a moderately severe phenotype of recessive dystrophic epidermolysis bullosa



Compound heterozygosity for premature termination codon and glycine substitution mutations in the COL7A1 gene in Korean siblings with a moderately severe phenotype of recessive dystrophic epidermolysis bullosa



Journal of Dermatological Science 33(3): 180-183




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Accession: 034631137

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PMID: 14643524

DOI: 10.1016/j.jdermsci.2003.08.007


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