My NCBI | Sign In
RSS Settings
  • Search:

Display Settings:

Format

Send to:

Choose Destination

    J Invest Dermatol. 1996 Aug;107(2):253-4.

    A novel keratin K5 gene mutation in Dowling-Meara epidermolysis bullosa simplex.

    Nomura K, Shimizu H, Meng X, Umeki K, Tamai K, Sawamura D, Nagao K, Kawakami T, Nishikawa T, Hashimoto I.

    Department of Dermatology, Hirosaki University School of Medicine, Japan.

    We examined keratin K14 and K5 genes mutation in a Japanese Dowling-Meara epidermolysis bullosa simplex patient with severe generalized blistering and erosions at birth. The patient had a C to T transition at the first position of codon 174 in the keratin K5 gene, which resulted in a Leu->Phe substitution at the highly conserved 1A domain in keratin K5. Thus, our results revealed a novel mutation in the helix initiation peptide of keratin K5.

    PMID: 8757772 [PubMed - indexed for MEDLINE]

    Publication Types, MeSH Terms, Substances

    Publication Types:

    MeSH Terms:

    Substances:

    LinkOut - more resources

    Full Text Sources:

    Medical:

    Supplemental Content

    Related articles

    All links from this record

    • Related Articles

      Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.

    • Gene

      Gene records that cite the current articles. Citations in Gene are added manually by NCBI or imported from outside public resources.

    • Gene (OMIM)

      Gene records associated with Online Mendelian Inheritance in Man (OMIM) records that cite the current articles in their reference lists.

    • HomoloGene

      HomoloGene clusters of homologous genes and sequences that cite the current articles. These are references on the Gene and sequence records in the HomoloGene entry.

    • Nucleotide (RefSeq)

      NCBI nucleotide Reference Sequences (RefSeqs) that are cited in the current articles, included in the corresponding Gene Reference into Function, or that include the PubMed articles as references.

    • Nucleotide (Weighted)

      Nucleotide records associated with the current articles through the Gene database. These are the related sequences on the Gene record that are added manually by NCBI.

    • OMIM (calculated)

      Online Mendelian Inheritance in Man (OMIM) records that include the current articles as references in the light bulb links within or in the citations at the end of the OMIM record. The references available through the light bulb link are collected using the PubMed related articles algorithm to identify records with similar terminology to the OMIM record.

    • OMIM (cited)

      Online Mendelian Inheritance in Man (OMIM) records that include the current articles as reference cited at the end of the OMIM record.

    • Protein (RefSeq)

      NCBI protein Reference Sequences (RefSeqs) that are cited in the current articles, included in the corresponding Gene Reference into Function, or that include the PubMed articles as references.

    • Protein (Weighted)

      Protein records associated with the current articles through related Gene database records. These are the related sequences on the Gene record that are added manually by NCBI.

    • Substance (MeSH Keyword)

      PubChem chemical substance (submitted) records that are classified under the same Medical Subject Headings (MeSH) controlled vocabulary as the current articles.

    • Taxonomy via GenBank

      Taxonomy records associated with the current articles through taxonomic information on related molecular database records (Nucleotide, Protein, Gene, SNP, Structure).

    • UniGene

      UniGene clusters of expressed sequences that are associated with the current articles through references on the clustered sequence records and related Gene records.

    • Protein

      Protein translation features of primary database (GenBank) nucleotide records reported in the current articles as well as Reference Sequences (RefSeqs) that include the articles as references.

    • GEO Profiles

      Gene Expression Omnibus (GEO) Profiles of molecular abundance data. The current articles are references on the Gene record associated with the GEO profile.

    Recent activity