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Splice-site mutations identified in PDE6A responsible for retinitis pigmentosa in consanguineous Pakistani families
PURPOSE: This study was conducted to localize and identify causal mutations associated with autosomal recessive retinitis pigmentosa (RP) in consanguineous familial cases of Pakistani origin. METHODS: Ophthalmic examinations that included funduscopy and electroretinography (ERG) were performed to co...
Αποθηκεύτηκε σε:
Τόπος έκδοσης: | Mol Vis |
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Κύριοι συγγραφείς: | , , , , , , , , , , , |
Μορφή: | Artigo |
Γλώσσα: | Inglês |
Έκδοση: |
Molecular Vision
2015
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Θέματα: | |
Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4539017/ https://ncbi.nlm.nih.gov/pubmed/26321862 |
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