Volume 152, Issue 6 pp. 1357-1359

Two novel heterozygous mutations in COL7A1 in a Chinese patient with recessive dystrophic epidermolysis bullosa of Hallopeau–Siemens type

W. Jiang,

W. Jiang

Department of Dermatology, Peking University First Hospital, Beijing 10034, China

Search for more papers by this author

Y. Sun,

Y. Sun

Department of Dermatology, Peking University First Hospital, Beijing 10034, China

Search for more papers by this author

S. Li,

S. Li

Department of Dermatology, Peking University First Hospital, Beijing 10034, China

Search for more papers by this author

X.X. Chen,

X.X. Chen

Department of Dermatology, Peking University First Hospital, Beijing 10034, China

Search for more papers by this author

D.F. Bu,

D.F. Bu

Department of Dermatology, Peking University First Hospital, Beijing 10034, China

Search for more papers by this author

X.J. Zhu,

X.J. Zhu

Department of Dermatology, Peking University First Hospital, Beijing 10034, China

Search for more papers by this author

W. Jiang,

W. Jiang

Department of Dermatology, Peking University First Hospital, Beijing 10034, China

Search for more papers by this author

Y. Sun,

Y. Sun

Department of Dermatology, Peking University First Hospital, Beijing 10034, China

Search for more papers by this author

S. Li,

S. Li

Department of Dermatology, Peking University First Hospital, Beijing 10034, China

Search for more papers by this author

X.X. Chen,

X.X. Chen

Department of Dermatology, Peking University First Hospital, Beijing 10034, China

Search for more papers by this author

D.F. Bu,

D.F. Bu

Department of Dermatology, Peking University First Hospital, Beijing 10034, China

Search for more papers by this author

X.J. Zhu,

X.J. Zhu

Department of Dermatology, Peking University First Hospital, Beijing 10034, China

Search for more papers by this author

First published: 08 June 2005

https://doi.org/10.1111/j.1365-2133.2005.06638.x

Citations: 5

Wei Jiang.
E-mail: [email protected]
[email protected]

Conflicts of interest: None declared.

Share a link

Email
Wechat
Bluesky

References

1 Gardella R, Zoppi N, Zambruno G et al. Different phenotypes in recessive dystrophic epidermolysis bullosa patients sharing the same mutation in compound heterozygosity with two novel mutations in the type VII collagen gene. Br J Dermatol 2002; 147: 450–7.DOI: 10.1046/j.1365-2133.2002.04914.x
10.1046/j.1365-2133.2002.04914.x
CAS PubMed Web of Science® Google Scholar
2 Salas-Alanis JC, Mellerio JE, Amaya-Guerra M et al. Frameshift mutation in the type VII collagen gene (COL7A1) in five Mexican cousins with recessive dystrophic epidermolysis bullosa. Br J Dermatol 1998; 138: 852–8.DOI: 10.1046/j.1365-2133.1998.02225.x
10.1046/j.1365-2133.1998.02225.x
CAS PubMed Web of Science® Google Scholar
3 Christiano AM, Hoffman GG, Chung-Honet LC et al. Structural organization of the human type VII collagen gene (COL7A1), compound of more exons than any previously characterized gene. Genomics 1994; 21: 169–79.
10.1006/geno.1994.1239
CAS PubMed Web of Science® Google Scholar
4 Shimizu H, McGrath JA, Christiano AM et al. Molecular basis of recessive dystrophic epidermolysis bullosa: genotype/phenotype correlation in a case of moderate clinical severity. J Invest Dermatol 1996; 106: 119–24.DOI: 10.1111/1523-1747.ep12329600
10.1111/1523-1747.ep12329600
CAS PubMed Web of Science® Google Scholar
5 Cserhalmi-Freidman PB, McGrath JA, Mellerio JE et al. Restoration of open reading frame resulting from skipping of an exon with an internal deletion in the COL7A1 gene. Lab Invest 1998; 78: 1483–92.
PubMed Web of Science® Google Scholar
6 Christiano AM, Amano S, Eichenfield LF et al. Premature termination codon mutations in the type VII collagen gene in recessive dystrophic epidermolysis bullosa result in nonsense-mediated mRNA decay and absence of functional protein. J Invest Dermatol 1997; 109: 390–4.
10.1111/1523-1747.ep12336276
CAS PubMed Web of Science® Google Scholar

Citing Literature

Volume152, Issue6

June 2005

Pages 1357-1359

Two novel heterozygous mutations in COL7A1 in a Chinese patient with recessive dystrophic epidermolysis bullosa of Hallopeau–Siemens type

References

Citing Literature

References

Information

About Wiley Online Library

Help & Support

Opportunities

Connect with Wiley

Two novel heterozygous mutations in COL7A1 in a Chinese patient with recessive dystrophic epidermolysis bullosa of Hallopeau–Siemens type

References

Citing Literature

References

Related

Information