Denaturing HPLC-based approach for detection of COL7A1 gene mutations causing dystrophic epidermolysis bullosa
- 23 December 2005
- journal article
- Published by Elsevier in Biochemical and Biophysical Research Communications
- Vol. 338 (3) , 1391-1401
- https://doi.org/10.1016/j.bbrc.2005.10.097
Abstract
No abstract availableKeywords
This publication has 34 references indexed in Scilit:
- Single Amino Acid Substitutions in Procollagen VII Affect Early Stages of Assembly of Anchoring FibrilsJournal of Biological Chemistry, 2005
- Genotype–Phenotype Correlation in Italian Patients with Dystrophic Epidermolysis BullosaJournal of Investigative Dermatology, 2002
- Compound Heterozygosity for Silent and Dominant Glycine Substitution Mutations in COL7A1 Leads to a Marked Transient Intracytoplasmic Retention of Procollagen VII and a Moderately Severe Dystrophic Epidermolysis Bullosa PhenotypeJournal of Investigative Dermatology, 1999
- Allelic Heterogeneity of Dominant and Recessive COL7A1 Mutations Underlying Epidermolysis Bullosa PruriginosaJournal of Investigative Dermatology, 1999
- Recurrent molecular abnormalities in type VII collagen in southern Italian patients with recessive dystrophic epidermolysis bullosaClinical and Experimental Dermatology, 1999
- Novel andDe Novo Glycine Substitution Mutations in the Type VII Collagen Gene (COL7A1) in Dystrophic Epidermolysis Bullosa: Implications for Genetic CounselingJournal of Investigative Dermatology, 1998
- Deletions within COL7A1 Exons Distant from Consensus Splice Sites Alter Splicing and Produce Shortened Polypeptides in Dominant Dystrophic Epidermolysis BullosaAmerican Journal of Human Genetics, 1998
- Novel COL7A1 Mutations in Dystrophic Forms of Epidermolysis BullosaJournal of Investigative Dermatology, 1998
- Strategy for identification of sequence variants in COL7A1 and a novel 2-bp deletion mutation in recessive dystrophic epidermolysis bullosaHuman Mutation, 1997
- Transforming growth factor-beta 1 modulates beta 1 and beta 5 integrin receptors and induces the de novo expression of the alpha v beta 6 heterodimer in normal human keratinocytes: implications for wound healing.The Journal of cell biology, 1995