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

Research output: Contribution to journalArticle

2 Citations (Scopus)
Original languageEnglish
Pages (from-to)222-225
Number of pages4
JournalJournal of Dermatological Science
Volume53
Issue number3
DOIs
Publication statusPublished - 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

Cite this

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.; Zoppi, N.; Venturini, M.; Calzavara-Pinton, P. G.; Barlati, S.; Colombi, M.

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

Research output: Contribution to journalArticle

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AU - Drera, B.

AU - Ritelli, M.

AU - Tadini, G.

AU - Zoppi, N.

AU - Venturini, M.

AU - Calzavara-Pinton, P. G.

AU - Barlati, S.

AU - Colombi, M.

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