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A novel GPR143 mutation in a Chinese family with X-linked ocular albinism type 1
Ocular albinism type 1 (OA1) is a genetic disorder characterized by reduced eye pigmentation and nystagmus, which is often accompanied by decreased visual acuity, strabismus and other symptoms, whereas skin and hair color remain normal. The present study aimed to assess the clinical features and per...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Mol Med Rep |
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| Κύριοι συγγραφείς: | , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
D.A. Spandidos
2020
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6896309/ https://ncbi.nlm.nih.gov/pubmed/31746431 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/mmr.2019.10813 |
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