Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1.
| Autor: | d’Addio, Marilena |
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| Zdroj: | Human Molecular Genetics; Dec2000, Vol. 9 Issue 20 |
| Abstrakt: | Characterizes a number of independent missense mutations with respect to processing and subcellular distribution on expression in COS-7 cells in order to shed light into the molecular pathogenesis of ocular albinism. Structure-function relationships of the ocular albanism type 1 (OA1) protein; Major pathogenic mechanism in OA1; Description of OA1. |
| Databáze: | Complementary Index |
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