New recessive dystrophic epidermolysis bullosa intermediate variant resulting from alternative splicing of exon 19 and truncation in the fibronectin III-like domain of type VII collagen.
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| Title: | New recessive dystrophic epidermolysis bullosa intermediate variant resulting from alternative splicing of exon 19 and truncation in the fibronectin III-like domain of type VII collagen. |
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| Authors: | Martynova AA; Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University, Moscow, Russia., Kubanov AA; State Research Centre of Dermatovenerology and Cosmetology, Moscow, Russia., Evtushenko NA; Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University, Moscow, Russia., Kosykh AV; Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University, Moscow, Russia., Kondratyev NV; Mental Health Research Centre, Moscow, Russia., Beilin AK; Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University, Moscow, Russia., Karamova AE; State Research Centre of Dermatovenerology and Cosmetology, Moscow, Russia., Monchakovskaya ES; State Research Centre of Dermatovenerology and Cosmetology, Moscow, Russia., Bogdanova EA; Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University, Moscow, Russia., Azimov KA; Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University, Moscow, Russia., Ziganshin RH; Shemyakin-Ovchinnikov Institute of Bioorganic Chemistry, Moscow, Russia., Nefedova MA; State Research Centre of Dermatovenerology and Cosmetology, Moscow, Russia., Bozhanova NG; Vanderbilt University, Nashville, TN, USA., Zaklyazminskaya EV; Petrovsky National Research Centre of Surgery, Moscow, Russia., Gurskaya NG; Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University, Moscow, Russia.; Shemyakin-Ovchinnikov Institute of Bioorganic Chemistry, Moscow, Russia. |
| Source: | The British journal of dermatology [Br J Dermatol] 2025 Jan 24; Vol. 192 (2), pp. 363-365. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Oxford University Press Country of Publication: England NLM ID: 0004041 Publication Model: Print Cited Medium: Internet ISSN: 1365-2133 (Electronic) Linking ISSN: 00070963 NLM ISO Abbreviation: Br J Dermatol Subsets: MEDLINE; In Process |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1365-2133 |
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| DOI: | 10.1093/bjd/ljae389 |
