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

Author： Kim J.   Kim S.-C.   Yasukawa K.   Shimizu H.  

Publisher： Elsevier

ISSN： 0923-1811

Source： Journal of Dermatological Science, Vol.33, Iss.3, 2003-12, pp. : 180-183

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