Recurrent Mutations in the Type VII Collagen Gene (COL7A1) in Patients with Recessive Dystrophic Epidermolysis Bullosa-Reference-Cited by-同舟云学术

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Recurrent Mutations in the Type VII Collagen Gene (COL7A1) in Patients with Recessive Dystrophic Epidermolysis Bullosa

Published:1997-08 Issue:2 Volume:109 Page:246-249
ISSN:0022-202X
Container-title:Journal of Investigative Dermatology
language:en
Short-container-title:Journal of Investigative Dermatology

Author:

Mellerio Jemima E.,Dunnill M.Giles S.,Allison Waridibe,Ashton Gabrielle H.S.,Christiano Angela M.,Uitto Jouni,Eady Robin A.J.,McGrath John A.

Publisher

Elsevier BV

Subject

Cell Biology,Dermatology,Molecular Biology,Biochemistry

Reference18 articles.

1. Nonsense mutations in the human β-glohin gene affect mRNA metabolism;Baserga;Proc Natl Acad Sci USA,1988

2. Type VII collagen, anchoring fibrils, and epidermolysis bullosa;Burgeson;J Invest Dermatol,1993

3. Translation to near the distal end of the penultimate exon is required for normal levels of spliced triosephosphate isomerase mRNA;Cheng;Mol Cell Biol,1990

4. Structural organization of the human type VII collagen gene (COL7A1), comprised of more exons than any previously characterized gene;Christiano;Genomics,1994

5. DNA-based prenatal diagnosis of recessive dystrophic epidermolysis bullosa in 10 families at risk for recurrence;Christiano;Mol Med,1996

Cited by 52 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Clinical and allelic heterogeneity in dystrophic epidermolysis bullosa- lessons from an Indian cohort;PLOS ONE;2023-08-09

2. Analysis of COL7A1 pathogenic variants in a large cohort of dystrophic epidermolysis bullosa patients from Argentina reveals a new genotype–phenotype correlation;American Journal of Medical Genetics Part A;2022-08-18

3. A Novel Heterozygous Missense Mutation in COL7A1 Gene in Dystrophic Epidermolysis Bullosa;INTERNATIONAL JOURNAL OF HUMAN GENETICS;2021-05-05

4. An Overview of Recent Advances and Clinical Applications of Exon Skipping and Splice Modulation for Muscular Dystrophy and Various Genetic Diseases;Methods in Molecular Biology;2018

5. Lysyl Hydroxylase 3 Localizes to Epidermal Basement Membrane and Is Reduced in Patients with Recessive Dystrophic Epidermolysis Bullosa;PLOS ONE;2015-09-18

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