SwePub
Sök i SwePub databas

  Extended search

Träfflista för sökning "WFRF:(Eudy James D.) "

Search: WFRF:(Eudy James D.)

  • Result 1-1 of 1
Sort/group result
   
EnumerationReferenceCoverFind
1.
  • Eudy, James D., et al. (author)
  • Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa
  • 1998
  • In: Science. - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 280:5370, s. 1753-1757
  • Journal article (peer-reviewed)abstract
    • 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.
  •  
Skapa referenser, mejla, bekava och länka
  • Result 1-1 of 1

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

 
pil uppåt Close

Copy and save the link in order to return to this view