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 › peer-review

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

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

Access to Document

10.1016/j.jdermsci.2003.08.007

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",

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

year = "2003",

month = dec,

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",

}

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 et al.

In: Journal of Dermatological Science, Vol. 33, No. 3, 12.2003, p. 180-183.

Research output: Contribution to journal › Letter › peer-review

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

N1 - Funding Information: This work was supported by the Brain Korea 21 project for medical science, Yonsei University.

PY - 2003/12

Y1 - 2003/12

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

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

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 -

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]

Bibliographical note

All Science Journal Classification (ASJC) codes

Access to Document

Other files and links

Cite this