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  • Eudy, James D. (author)

Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa

  • Article/chapterEnglish1998

Publisher, publication year, extent ...

  • American Association for the Advancement of Science (AAAS),1998
  • printrdacarrier

Numbers

  • LIBRIS-ID:oai:DiVA.org:oru-10198
  • https://urn.kb.se/resolve?urn=urn:nbn:se:oru:diva-10198URI
  • https://doi.org/10.1126/science.280.5370.1753DOI

Supplementary language notes

  • Language:English
  • Summary in:English

Part of subdatabase

Classification

  • Subject category:ref swepub-contenttype
  • Subject category:art swepub-publicationtype

Notes

  • Usher syndrome type IIa (OMIM 276901), an autosomal recessive disorder characterized by moderate to severe sensorineural hearing loss and progressive retinitis pigmentosa, maps to the long arm of human chromosome 1q41 between markers AFM268ZD1 and AFM144XF2. Three biologically important mutations in Usher syndrome type IIa patients were identified in a gene (USH2A) isolated from this critical region. The USH2A gene encodes a protein with a predicted size of 171.5 kilodaltons that has laminin epidermal growth factor and fibronectin type III motifs; these motifs are most commonly observed in proteins comprising components of the basal lamina and extracellular matrixes and in cell adhesion molecules.

Subject headings and genre

  • Medicine
  • Medicin

Added entries (persons, corporate bodies, meetings, titles ...)

  • Weston, Michael D. (author)
  • Yao, SuFang (author)
  • Hoover, Denise M. (author)
  • Rehm, Heidi L. (author)
  • Ma-Edmonds, Manling (author)
  • Yan, Denise (author)
  • Ahmad, Iqbal (author)
  • Cheng, Jason J. (author)
  • Ayuso, Carmen (author)
  • Cremers, Cor (author)
  • Davenport, Sandra (author)
  • Möller, Claes,1950-Örebro universitet,Hälsoakademin(Swepub:oru)cmr (author)
  • Talmadge, Catherine B. (author)
  • Beisel, Kirk W. (author)
  • Tamayo, Marta (author)
  • Morton, Cynthia C. (author)
  • Swaroop, Anand (author)
  • Kimberling, William J. (author)
  • Sumegi, Janos (author)
  • Örebro universitetHälsoakademin (creator_code:org_t)

Related titles

  • In:Science: American Association for the Advancement of Science (AAAS)280:5370, s. 1753-17570036-80751095-9203

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