Literature DB >> 30168161

Dominant dystrophic epidermolysis bullosa pruriginosa with a COL7A1 exon 87 c.6898C>T mutation.

E Nakamura1, Y Majima1, H Hashizume2, Y Tokura3, H Nakano4.   

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Year:  2018        PMID： 30168161     DOI： 10.1111/ced.13715

Source DB:  PubMed          Journal:  Clin Exp Dermatol        ISSN： 0307-6938            Impact factor:   3.470


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1.  Apparent Missense Variant in COL7A1 Causes a Severe Form of Recessive Dystrophic Epidermolysis Bullosa via Effects on Splicing.

Authors:  Syed Ashraf Uddin; Nicole Cesarato; Aytaj Humbatova; Axel Schmidt; Fazal urRehman; Muhammad Naeem; Abdul Samad Tareen; Sabrina Wolf; Muhammad Anwar Panezai; Holger Thiele; Abdul Wali; Regina Fölster-Holst; Sulman Basit; Muhammad Ayub; Regina C Betz
Journal:  Acta Derm Venereol       Date:  2020-09-30       Impact factor: 3.875
  1 in total

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