WFRF:(Eudy James D.)
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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 02588naa a2200505 4500 | |
| 001 | oai:DiVA.org:oru-10198 | |
| 003 | SwePub | |
| 008 | 100324s1998 | |||||||||||000 ||eng| | |
| 024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:oru:diva-101982 URI |
| 024 | 7 | a https://doi.org/10.1126/science.280.5370.17532 DOI |
| 040 | a (SwePub)oru | |
| 041 | a engb eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a ref2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a Eudy, James D.4 aut |
| 245 | 1 0 | a Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa |
| 264 | 1 | b American Association for the Advancement of Science (AAAS),c 1998 |
| 338 | a print2 rdacarrier | |
| 520 | a 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. | |
| 653 | a Medicine | |
| 653 | a Medicin | |
| 700 | 1 | a Weston, Michael D.4 aut |
| 700 | 1 | a Yao, SuFang4 aut |
| 700 | 1 | a Hoover, Denise M.4 aut |
| 700 | 1 | a Rehm, Heidi L.4 aut |
| 700 | 1 | a Ma-Edmonds, Manling4 aut |
| 700 | 1 | a Yan, Denise4 aut |
| 700 | 1 | a Ahmad, Iqbal4 aut |
| 700 | 1 | a Cheng, Jason J.4 aut |
| 700 | 1 | a Ayuso, Carmen4 aut |
| 700 | 1 | a Cremers, Cor4 aut |
| 700 | 1 | a Davenport, Sandra4 aut |
| 700 | 1 | a Möller, Claes,d 1950-u Örebro universitet,Hälsoakademin4 aut0 (Swepub:oru)cmr |
| 700 | 1 | a Talmadge, Catherine B.4 aut |
| 700 | 1 | a Beisel, Kirk W.4 aut |
| 700 | 1 | a Tamayo, Marta4 aut |
| 700 | 1 | a Morton, Cynthia C.4 aut |
| 700 | 1 | a Swaroop, Anand4 aut |
| 700 | 1 | a Kimberling, William J.4 aut |
| 700 | 1 | a Sumegi, Janos4 aut |
| 710 | 2 | a Örebro universitetb Hälsoakademin4 org |
| 773 | 0 | t Scienced : American Association for the Advancement of Science (AAAS)g 280:5370, s. 1753-1757q 280:5370<1753-1757x 0036-8075x 1095-9203 |
| 856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:oru:diva-10198 |
| 856 | 4 8 | u https://doi.org/10.1126/science.280.5370.1753 |
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