Mutation Screen of the Membrane-Type Frizzled-Related Protein (MFRP) Gene in Patients with Inherited Retinal Degenerations
MFRP is a member of the frizzled-related protein family and contains a cysteine-rich domain essential for Wnt binding and signaling. MFRP is highly expressed in the retinal pigment epithelial cells of the eye. A splice donor mutation in the mouse ortholog of Mfrp is responsible for photoreceptor deg...
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Veröffentlicht in: | Ophthalmic genetics 2005-12, Vol.26 (4), p.157-161 |
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