The novel p.G150R missense mutation in the cartilage matrix protein subdomain of type VII collagen in compound heterozigosity with the c.682 + 1G > A COL7A1 splicing mutation leads to mild dystrophic epidermolysis bullosa

B. Drera; M. Ritelli; G. Tadini; N. Zoppi; M. Venturini; P. G. Calzavara-Pinton; S. Barlati; M. Colombi

doi:10.1016/j.jdermsci.2008.09.005

The novel p.G150R missense mutation in the cartilage matrix protein subdomain of type VII collagen in compound heterozigosity with the c.682 + 1G > A COL7A1 splicing mutation leads to mild dystrophic epidermolysis bullosa

B. Drera, M. Ritelli, G. Tadini, N. Zoppi, M. Venturini, P. G. Calzavara-Pinton, S. Barlati, M. Colombi

Fondazione IRCCS Ca' Granda- Ospedale Maggiore Policlinico

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

Original language	English
Pages (from-to)	222-225
Number of pages	4
Journal	Journal of Dermatological Science
Volume	53
Issue number	3
DOIs	https://doi.org/10.1016/j.jdermsci.2008.09.005
Publication status	Published - Mar 2009

Keywords

Cartilage matrix protein subdomain
COL7A1 gene
Dystrophic epidermolysis bullosa
Splicing mutation
Type VII collagen

ASJC Scopus subject areas

Dermatology
Biochemistry
Molecular Biology

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10.1016/j.jdermsci.2008.09.005

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Drera, B., Ritelli, M., Tadini, G., Zoppi, N., Venturini, M., Calzavara-Pinton, P. G., Barlati, S., & Colombi, M. (2009). The novel p.G150R missense mutation in the cartilage matrix protein subdomain of type VII collagen in compound heterozigosity with the c.682 + 1G > A COL7A1 splicing mutation leads to mild dystrophic epidermolysis bullosa. Journal of Dermatological Science, 53(3), 222-225. https://doi.org/10.1016/j.jdermsci.2008.09.005

The novel p.G150R missense mutation in the cartilage matrix protein subdomain of type VII collagen in compound heterozigosity with the c.682 + 1G > A COL7A1 splicing mutation leads to mild dystrophic epidermolysis bullosa. / Drera, B.; Ritelli, M.; Tadini, G. et al.

In: Journal of Dermatological Science, Vol. 53, No. 3, 03.2009, p. 222-225.

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

Drera, B, Ritelli, M, Tadini, G, Zoppi, N, Venturini, M, Calzavara-Pinton, PG, Barlati, S & Colombi, M 2009, 'The novel p.G150R missense mutation in the cartilage matrix protein subdomain of type VII collagen in compound heterozigosity with the c.682 + 1G > A COL7A1 splicing mutation leads to mild dystrophic epidermolysis bullosa', Journal of Dermatological Science, vol. 53, no. 3, pp. 222-225. https://doi.org/10.1016/j.jdermsci.2008.09.005

Drera B, Ritelli M, Tadini G, Zoppi N, Venturini M, Calzavara-Pinton PG et al. The novel p.G150R missense mutation in the cartilage matrix protein subdomain of type VII collagen in compound heterozigosity with the c.682 + 1G > A COL7A1 splicing mutation leads to mild dystrophic epidermolysis bullosa. Journal of Dermatological Science. 2009 Mar;53(3):222-225. doi: 10.1016/j.jdermsci.2008.09.005

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keywords = "Cartilage matrix protein subdomain, COL7A1 gene, Dystrophic epidermolysis bullosa, Splicing mutation, Type VII collagen",

author = "B. Drera and M. Ritelli and G. Tadini and N. Zoppi and M. Venturini and Calzavara-Pinton, {P. G.} and S. Barlati and M. Colombi",

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AU - Ritelli, M.

AU - Tadini, G.

AU - Zoppi, N.

AU - Venturini, M.

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AU - Colombi, M.

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The novel p.G150R missense mutation in the cartilage matrix protein subdomain of type VII collagen in compound heterozigosity with the c.682 + 1G > A COL7A1 splicing mutation leads to mild dystrophic epidermolysis bullosa

Keywords

ASJC Scopus subject areas

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