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Quoted phrase not found in phrase index: "Dominant dystrophic epidermolysis bullosa with absence of skin"
Page 1
Antisense-Mediated Splice Modulation to Reframe Transcripts.
Titeux M, Turczynski S, Pironon N, Hovnanian A. Titeux M, et al. Methods Mol Biol. 2018;1828:531-552. doi: 10.1007/978-1-4939-8651-4_35. Methods Mol Biol. 2018. PMID: 30171566
Numerous genetic disorders are caused by loss-of-function mutations that disrupt the open reading frame of the gene either by nonsense or by frameshift (insertion, deletion, indel, or splicing) mutations. Most of the time, the result is the absence of functional protein sy …
Numerous genetic disorders are caused by loss-of-function mutations that disrupt the open reading frame of the gene either by nonsense or by …
Development of Minicircle Vectors Encoding COL7A1 Gene with Human Promoters for Non-Viral Gene Therapy for Recessive Dystrophic Epidermolysis Bullosa.
Wang X, Alshehri F, Manzanares D, Li Y, He Z, Qiu B, Zeng M, A S, Lara-Sáez I, Wang W. Wang X, et al. Int J Mol Sci. 2021 Nov 26;22(23):12774. doi: 10.3390/ijms222312774. Int J Mol Sci. 2021. PMID: 34884578 Free PMC article.
Recessive dystrophic epidermolysis bullosa (RDEB) is a rare autosomal inherited skin disorder caused by mutations in the COL7A1 gene that encodes type VII collagen (C7). ...With this approach, safety is improved by avoiding the usage of viruses, the …
Recessive dystrophic epidermolysis bullosa (RDEB) is a rare autosomal inherited skin disorder caused by mutation …
Antisense-mediated exon skipping to reframe transcripts.
Turczynski S, Titeux M, Pironon N, Hovnanian A. Turczynski S, et al. Methods Mol Biol. 2012;867:221-38. doi: 10.1007/978-1-61779-767-5_15. Methods Mol Biol. 2012. PMID: 22454065
Numerous genetic disorders are caused by loss-of-function mutations that disrupt the open reading frame of the gene either by nonsense or by frameshift (insertion, deletion, indel, or splicing) mutations. Most of the time, the result is the absence of functional protein sy …
Numerous genetic disorders are caused by loss-of-function mutations that disrupt the open reading frame of the gene either by nonsense or by …
Crusted (Norwegian) scabies in a patient with dystrophic epidermolysis bullosa.
Van Der Wal VB, Van Voorst Vader PC, Mandema JM, Jonkman MF. Van Der Wal VB, et al. Br J Dermatol. 1999 Nov;141(5):918-21. doi: 10.1046/j.1365-2133.1999.03170.x. Br J Dermatol. 1999. PMID: 10583180
A 13-year-old girl with severe non-mutilating recessive dystrophic epidermolysis bullosa (EB) was admitted to hospital because of a Staphyloccus aureussepsos, deterioration of her general condition and worsening of her skin disease, which itched severe …
A 13-year-old girl with severe non-mutilating recessive dystrophic epidermolysis bullosa (EB) was admitted to hospital …
Bart's syndrome in a family affected three consecutive generations with mutation c.6007G>A in COL7A1.
Chen Z, Bu W, Feng S, Wang H. Chen Z, et al. J Dermatol. 2018 Aug;45(8):1000-1002. doi: 10.1111/1346-8138.14352. Epub 2018 May 3. J Dermatol. 2018. PMID: 29722429
Bart's syndrome (BS), characterized by aplasia cutis congenita (ACC, also called congenital localized absence of skin) and epidermolysis bullosa (EB), is diagnosed clinically based on the disorder's unique signs and symptoms. ...
Bart's syndrome (BS), characterized by aplasia cutis congenita (ACC, also called congenital localized absence of skin) and …