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 journalLetter

2 Citations (Scopus)
Original languageEnglish
Pages (from-to)180-183
Number of pages4
JournalJournal of Dermatological Science
Volume33
Issue number3
DOIs
Publication statusPublished - 2003 Dec

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Glycine
Substitution reactions
Genes

All Science Journal Classification (ASJC) codes

  • Biochemistry
  • Molecular Biology
  • Dermatology

Cite this

@article{4515a4257b424ec986f80770554f6538,
title = "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]",
author = "Jooyoung Kim and Kim, {Soo Chan} and Kana Yasukawa and Hiroshi Shimizu",
year = "2003",
month = "12",
doi = "10.1016/j.jdermsci.2003.08.007",
language = "English",
volume = "33",
pages = "180--183",
journal = "Journal of Dermatological Science",
issn = "0923-1811",
publisher = "Elsevier Ireland Ltd",
number = "3",

}

TY - JOUR

T1 - 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]

AU - Kim, Jooyoung

AU - Kim, Soo Chan

AU - Yasukawa, Kana

AU - Shimizu, Hiroshi

PY - 2003/12

Y1 - 2003/12

UR - http://www.scopus.com/inward/record.url?scp=0344873316&partnerID=8YFLogxK

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U2 - 10.1016/j.jdermsci.2003.08.007

DO - 10.1016/j.jdermsci.2003.08.007

M3 - Letter

C2 - 14643524

AN - SCOPUS:0344873316

VL - 33

SP - 180

EP - 183

JO - Journal of Dermatological Science

JF - Journal of Dermatological Science

SN - 0923-1811

IS - 3

ER -