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Novel mutations in RDH5 cause fundus albipunctatus in two consanguineous Pakistani families
PURPOSE: To identify the underlying genetic causes of fundus albipunctatus (FA), a rare form of congenital stationary night blindness that is characterized by the presence of white dots in the midperiphery of the retina and delayed dark adaptation, in Pakistan. METHODS: Two families with FA were ide...
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , , , , , , , , , , , |
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| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Molecular Vision
2012
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3380946/ https://ncbi.nlm.nih.gov/pubmed/22736946 |
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