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, SooChan Kim, Kana Yasukawa, Hiroshi Shimizu

Research output: Contribution to journal › Letter

2 Citations (Scopus)
Original languageEnglish
Pages (from-to)180-183
Number of pages4
JournalJournal of Dermatological Science
Volume33
Issue number3
DOIs
Publication statusPublished - 2003 Jan 1

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Epidermolysis Bullosa Dystrophica
Nonsense Codon
Glycine
Siblings
Phenotype
Mutation
Genes

All Science Journal Classification (ASJC) codes

  • Biochemistry
  • Molecular Biology
  • Dermatology

Cite this

Kim, Jooyoung ; Kim, SooChan ; Yasukawa, Kana ; Shimizu, Hiroshi. / 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]. In: Journal of Dermatological Science. 2003 ; Vol. 33, No. 3. pp. 180-183.
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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 SooChan Kim and Kana Yasukawa and Hiroshi Shimizu",
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journal = "Journal of Dermatological Science",
issn = "0923-1811",
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Kim, J, Kim, S, Yasukawa, K & Shimizu, H 2003, '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]', Journal of Dermatological Science, vol. 33, no. 3, pp. 180-183. https://doi.org/10.1016/j.jdermsci.2003.08.007

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]. / Kim, Jooyoung; Kim, SooChan; Yasukawa, Kana; Shimizu, Hiroshi.

In: Journal of Dermatological Science, Vol. 33, No. 3, 01.01.2003, p. 180-183.

Research output: Contribution to journal › Letter

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, SooChan

AU - Yasukawa, Kana

AU - Shimizu, Hiroshi

PY - 2003/1/1

Y1 - 2003/1/1

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U2 - 10.1016/j.jdermsci.2003.08.007

DO - 10.1016/j.jdermsci.2003.08.007

M3 - Letter

VL - 33

SP - 180

EP - 183

JO - Journal of Dermatological Science

JF - Journal of Dermatological Science

SN - 0923-1811

IS - 3

ER -

Kim J, Kim S, Yasukawa K, Shimizu H. 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]. Journal of Dermatological Science. 2003 Jan 1;33(3):180-183. https://doi.org/10.1016/j.jdermsci.2003.08.007

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