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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.
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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  Data: 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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  Data: <searchLink fieldCode="AU" term="%22Martynova+AA%22">Martynova AA</searchLink>; Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Kubanov+AA%22">Kubanov AA</searchLink>; State Research Centre of Dermatovenerology and Cosmetology, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Evtushenko+NA%22">Evtushenko NA</searchLink>; Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Kosykh+AV%22">Kosykh AV</searchLink>; Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Kondratyev+NV%22">Kondratyev NV</searchLink>; Mental Health Research Centre, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Beilin+AK%22">Beilin AK</searchLink>; Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Karamova+AE%22">Karamova AE</searchLink>; State Research Centre of Dermatovenerology and Cosmetology, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Monchakovskaya+ES%22">Monchakovskaya ES</searchLink>; State Research Centre of Dermatovenerology and Cosmetology, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Bogdanova+EA%22">Bogdanova EA</searchLink>; Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Azimov+KA%22">Azimov KA</searchLink>; Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Ziganshin+RH%22">Ziganshin RH</searchLink>; Shemyakin-Ovchinnikov Institute of Bioorganic Chemistry, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Nefedova+MA%22">Nefedova MA</searchLink>; State Research Centre of Dermatovenerology and Cosmetology, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Bozhanova+NG%22">Bozhanova NG</searchLink>; Vanderbilt University, Nashville, TN, USA.<br /><searchLink fieldCode="AU" term="%22Zaklyazminskaya+EV%22">Zaklyazminskaya EV</searchLink>; Petrovsky National Research Centre of Surgery, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Gurskaya+NG%22">Gurskaya NG</searchLink>; 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.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Oxford+University+Press%22">Oxford University Press </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>0004041 <i>Publication Model: </i>Print <i>Cited Medium: </i>Internet <i>ISSN: </i>1365-2133 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200070963%22">00070963 </searchLink><i>NLM ISO Abbreviation: </i>Br J Dermatol <i>Subsets: </i>MEDLINE; In Process
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              Text: 2025 Jan 24
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