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

doi: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]

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

Department of Dermatology

Research output: Contribution to journal › Letter

2 Citations (Scopus)

Original language	English
Pages (from-to)	180-183
Number of pages	4
Journal	Journal of Dermatological Science
Volume	33
Issue number	3
DOIs	https://doi.org/10.1016/j.jdermsci.2003.08.007
Publication status	Published - 2003 Dec

All Science Journal Classification (ASJC) codes

Biochemistry
Molecular Biology
Dermatology

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10.1016/j.jdermsci.2003.08.007

Cite this

Kim, J., Kim, S. C., 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, 33(3), 180-183. https://doi.org/10.1016/j.jdermsci.2003.08.007

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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 Kim, {Soo Chan} and Kana Yasukawa and Hiroshi Shimizu",

year = "2003",

month = dec,

doi = "10.1016/j.jdermsci.2003.08.007",

language = "English",

volume = "33",

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journal = "Journal of Dermatological Science",

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Kim, J, Kim, SC, 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, Soo Chan; Yasukawa, Kana; Shimizu, Hiroshi.

In: Journal of Dermatological Science, Vol. 33, No. 3, 12.2003, 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, Soo Chan

AU - Yasukawa, Kana

AU - Shimizu, Hiroshi

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AN - SCOPUS:0344873316

VL - 33

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EP - 183

JO - Journal of Dermatological Science

JF - Journal of Dermatological Science

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