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Case Report: Whole exome sequencing reveals a novel frameshift deletion mutation p.G2254fs in COL7A1 associated with autosomal recessive dystrophic epidermolysis bullosa

机译：案例报告：整个外壳测序揭示了与常染色体隐性营养不良表皮细胞相关的COL7A1中的新型帧缺失突变P.G2254FS

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Shamsudheen Karuthedath Vellarikkal; Rijith Jayarajan; Ankit Verma; Sreelata Nair; Rowmika Ravi; Vigneshwar Senthivel; Sridhar Sivasubbu; Vinod Scaria;
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1. One Novel Frameshift Mutation on Exon 64 of COL7A1 Gene in an Iranian Individual Suffering Recessive Dystrophic Epidermolysis Bullosa [J] . Khaniani Mahmoud Shekari, Sohrabi Nasrin, Derakhshan Neda Mansoori, Annals of Clinical and Laboratory Science: Official Journal of the Association of Clinical Scientists . 2015,第5期

机译：一名患有隐性营养不良性表皮松解大疱的伊朗个体的COL7A1基因第64外显子的一种新型移码突变。
2. Recessive dystrophic epidermolysis bullosa caused by a de novo interstitial deletion spanning COL7A1 and a hemizygous splicing mutation in trans [J] . Lee M., Xu G., Wang K., Clinical and experimental dermatology . 2016,第4期

机译：引起的隐性营养不良性大疱性表皮松解由跨越COL7A1的从头间质缺失和反式中的半合子剪接突变引起
3. Novel deletion mutation (c.3717del5) in COL7A1 in a patient with recessive dystrophic epidermolysis bullosa [J] . LeeS.H., KimS.-E., NohE.B., The Journal of dermatology . 2013,第1期

机译：隐性营养不良性大疱性表皮松解症患者COL7A1中的新型缺失突变（c.3717del5）
4. An incompletely penetrant COL7A1 mutation causes dystrophic epidermolysis bullosa and epidermolysis bullosa pruriginosa. [D] . Yang, Catherine. 2012

机译：渗透性不完全的COL7A1突变会导致营养不良性大疱性表皮松解和大疱性表皮松解。
5. Case Report: Whole exome sequencing reveals a novel frameshift deletion mutation p.G2254fs in COL7A1 associated with autosomal recessive dystrophic epidermolysis bullosa [O] . Shamsudheen Karuthedath Vellarikkal, Rijith Jayarajan, Ankit Verma, -1

机译：病例报告：全外显子组测序揭示了与常染色体隐性营养不良性表皮松解性大疱相关的COL7A1中新的移码缺失突变p.G2254fs
6. Whole-exome sequencing in a consanguineous Pakistani family identifies a mutational hotspot in the COL7A1 gene, causing recessive dystrophic epidermolysis bullosa [O] . Atta Ur Rehman, Virginie G. Peter, Mathieu Quinodoz, 2020

机译：在临近的巴基斯坦家族中的全面测序识别COL7A1基因中的突变热点，导致隐性营养不良表皮细胞Bullosa
7. Molecular Characterization of Squamous Cell Carcinomas From Recessive Dystrophic Epidermolysis Bullosa [R] . Mahoney, M. G. , Rodeck, U. , Uitto, J. 2006

机译：隐性营养不良性大疱性表皮松解症鳞状细胞癌的分子特征

Case Report: Whole exome sequencing reveals a novel frameshift deletion mutation p.G2254fs in COL7A1 associated with autosomal recessive dystrophic epidermolysis bullosa

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