Lack of Overt Retinal Degeneration in a K42E <i>Dhdds</i> Knock-In Mouse Model of RP59
Dehydrodolichyl diphosphate synthase (DHDDS) is required for protein <i>N</i>-glycosylation in eukaryotic cells. A K42E point mutation in the DHDDS gene causes an autosomal recessive form of retinitis pigmentosa (RP59), which has been classified as a congenital disease of glycosylation (CDG). We gen...
I tiakina i:
| Ngā kaituhi matua: | , , , , |
|---|---|
| Hōputu: | Artigo |
| Reo: | Inglês |
| I whakaputaina: |
MDPI AG
2020-04-01
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| Rangatū: | Cells |
| Ngā marau: | |
| Urunga tuihono: | https://www.mdpi.com/2073-4409/9/4/896 |
| Ngā Tūtohu: |
Kāore He Tūtohu, Me noho koe te mea tuatahi ki te tūtohu i tēnei pūkete!
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