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 [2]

Jooyoung Kim, Soo Chan Kim, Kana Yasukawa, Hiroshi Shimizu

Research output: Contribution to journalLetterpeer-review

2 Citations (Scopus)
Original languageEnglish
Pages (from-to)180-183
Number of pages4
JournalJournal of Dermatological Science
Issue number3
Publication statusPublished - 2003 Dec

Bibliographical note

Funding Information:
This work was supported by the Brain Korea 21 project for medical science, Yonsei University.

All Science Journal Classification (ASJC) codes

  • Biochemistry
  • Molecular Biology
  • Dermatology

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