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X-Linked Retinitis Pigmentosa Caused by Non-Canonical Splice Site Variants in RPGR
We aimed to validate the effect of non-canonical splice site variants in the RPGR gene in five patients from four families diagnosed with retinitis pigmentosa. Four variants located in intron 2 (c.154 + 3_154 + 6del), intron 3 (c.247 + 5G>A), intron 7 (c.779-5T>G), and intron 13 (c.1573-12A>...
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| Vydáno v: | Int J Mol Sci |
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| Hlavní autoři: | , , , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
MDPI
2021
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7830253/ https://ncbi.nlm.nih.gov/pubmed/33467000 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms22020850 |
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