Autosomal Recessive Retinitis Pigmentosa Caused by Mutations in the MAK Gene

PURPOSE. To determine the disease expression in autosomal recessive (ar) retinitis pigmentosa (RP) caused by mutations in the MAK (male germ cell-associated kinase) gene. METHODS. Patients with RP and MAK gene mutations (n = 24; age, 32–77 years at first visit) were studied by ocular examination, pe...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: Stone, Edwin M., Luo, Xunda, Héon, Elise, Lam, Byron L., Weleber, Richard G., Halder, Jennifer A., Affatigato, Louisa M., Goldberg, Jacqueline B., Sumaroka, Alexander, Schwartz, Sharon B., Cideciyan, Artur V., Jacobson, Samuel G.
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: Association for Research in Vision and Ophthalmology, Inc. 2011
Θέματα:
Articles
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3341124/
https://ncbi.nlm.nih.gov/pubmed/22110072
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.11-8527
Ετικέτες: Προσθήκη ετικέτας
Δεν υπάρχουν, Καταχωρήστε ετικέτα πρώτοι!

Παρόμοια τεκμήρια