asparagine and Epidermolysis Bullosa Simplex

asparagine has been researched along with Epidermolysis Bullosa Simplex in 2 studies

Research

Studies (2)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's2 (100.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Bowden, PE; Komel, R; Liovic, M; Marks, R1
Hamada, T; Hashimoto, T; Kawano, Y; Kowalewski, C; Schwartz, RA; Szczecinska, W; Wozniak, K; Yasumoto, S1

Other Studies

2 other study(ies) available for asparagine and Epidermolysis Bullosa Simplex

ArticleYear
A mutation (N177S) in the structurally conserved helix initiation peptide motif of keratin 5 causes a mild EBS phenotype.
    Experimental dermatology, 2004, Volume: 13, Issue:5

    Topics: Adult; Amino Acid Motifs; Asparagine; Base Sequence; DNA; DNA Mutational Analysis; Epidermolysis Bullosa Simplex; Female; Heterozygote; Humans; Keratin-5; Keratins; Mutation, Missense; Pedigree; Phenotype; Polymerase Chain Reaction; Serine

2004
A novel autosomal partially dominant mutation designated G476D in the keratin 5 gene causing epidermolysis bullosa simplex Weber-Cockayne type: a family study with a genetic twist.
    International journal of molecular medicine, 2007, Volume: 20, Issue:1

    Topics: Adolescent; Amino Acid Substitution; Asparagine; Biopsy; DNA Mutational Analysis; Epidermolysis Bullosa Simplex; Exons; Fathers; Female; Humans; Immunohistochemistry; Keratin-5; Male; Pedigree

2007