Mutation-Dependent Pathomechanisms Determine the Phenotype in the Bestrophinopathies
Article
Nachtigal, Anna-Lena, Milenkovic, Andrea, Brandl, Caroline
, Schulz, Heidi L., Duerr, Lisa M. J., Lang, Gabriele E., Reiff, Charlotte, Herrmann, Philipp, Kellner, Ulrich and Weber, Bernhard H. F.
(2020)
Mutation-Dependent Pathomechanisms Determine the Phenotype in the Bestrophinopathies.
International Journal of Molecular Sciences 21 (5), p. 1597.
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| Item type | Article | ||||
| Journal or Publication Title | International Journal of Molecular Sciences | ||||
| Publisher | MDPI | ||||
| Place of Publication | BASEL | ||||
| Volume | 21 | ||||
| Number of Issue or Book Chapter | 5 | ||||
| Page Range | p. 1597 | ||||
| Date | 2020 | ||||
| Date of publication | 11 Oct 2021 13:01 | ||||
| Institutions | Medicine > Lehrstuhl für Augenheilkunde Medicine > Lehrstuhl für Humangenetik Medicine > Institut für Epidemiologie und Präventivmedizin > Lehrstuhl für Genetische Epidemiologie | ||||
| Identification Number |
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| Keywords | RETINAL-PIGMENT EPITHELIUM; PLURIPOTENT STEM-CELLS; BEST-DISEASE; MISSENSE MUTATIONS; ACIDIC PH; RPE CELLS; GENE; DEGRADATION; PROTEIN; VMD2; bestrophin-1; BEST1; induced pluripotent stem cell; retinal pigment epithelium; ER-associated degradation; endo-lysosomal degradation pathway; pathomechanism; Best vitelliform macular dystrophy; Best disease; autosomal recessive bestrophinopathy; autosomal dominant vitreoretinochoroidopathy | ||||
| Dewey Decimal Classification | 600 Technology > 610 Medical sciences Medicine | ||||
| Status | Published | ||||
| Refereed | Yes, this version has been refereed | ||||
| Created at the University of Regensburg | Yes | ||||
| Item ID | 50249 |
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