Clinical and biochemical effects of the E139K missense mutation in the TIMP3 gene, associated with Sorsby fundus dystrophy

PURPOSE: To determine the phenotypic and biochemical characteristics of the p.E139K missense variant in tissue inhibitor of metalloproteinase 3 (TIMP3) associated with Sorsby fundus dystrophy (SFD). METHODS: The coding regions and adjacent intronic sequence of TIMP3 were amplified by polymerase chai...

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Hlavní autoři: Saihan, Z., Li, Z., Rice, J., Rana, N.A., Ramsden, S., Schlottmann, P.G., Jenkins, S.A., Blyth, C., Black, G.C., McKie, N., Webster, A.R.
Médium: Artigo
Jazyk:Inglês
Vydáno: Molecular Vision 2009
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2697491/
https://ncbi.nlm.nih.gov/pubmed/19536307
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