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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第一作者： Aleksandra A,Martynova

第一单位： Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University, Moscow, Russia.

作者： Aleksandra A,Martynova ^[1] ; Alexey A,Kubanov ^[2] ; Nadezhda A,Evtushenko ^[1] ; Anastasiya V,Kosykh ^[1] ; Nikolay V,Kondratyev ^[3] ; Arkadii K,Beilin ^[1] ; Arfenya E,Karamova ^[2] ; Ekaterina S,Monchakovskaya ^[2] ; Ekaterina A,Bogdanova ^[1] ; Karim A,Azimov ^[1] ; Rustam H,Ziganshin ^[4] ; Maria A,Nefedova ^[2] ; Nina G,Bozhanova ^[5] ; Elena V,Zaklyazminskaya ^[6] ; Nadya G,Gurskaya ^[7]

作者单位： Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University, Moscow, Russia. ^[1] State Research Centre of Dermatovenerology and Cosmetology, Moscow, Russia. ^[2] Mental Health Research Centre, Moscow, Russia. ^[3] Shemyakin-Ovchinnikov Institute of Bioorganic Chemistry, Moscow, Russia. ^[4] Vanderbilt University, Nashville, TN, USA. ^[5] Petrovsky National Research Centre of Surgery, Moscow, Russia. ^[6] 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. ^[7]

DOI 10.1093/bjd/ljae389

PMID 39391914

发布时间 2025-01-24

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The British journal of dermatology

2025年192卷2期

363-365页

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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.

The British journal of dermatology

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The British journal of dermatology

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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.

The British journal of dermatology

相似文献

The British journal of dermatology

相关期刊

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