Φορτώνει......
CRB1 Gene Mutation Causing Different Phenotypes of Leber Congenital Amaurosis in Siblings
PURPOSE: We report a rare case of CRB1gene mutation in two siblings (sisters) affected with the exact same genetic mutation on both CRB1genes resulting in varying phenotypes. CASE REPORT: CRB1gene mutation in this case has resulted in causing varying degrees of Leber congenital amaurosis (LCA) in bo...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | J Ophthalmic Vis Res |
|---|---|
| Κύριοι συγγραφείς: | , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
PUBLISHED BY KNOWLEDGE E
2019
|
| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6825708/ https://ncbi.nlm.nih.gov/pubmed/31875109 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.18502/jovr.v14i4.5467 |
| Ετικέτες: |
Προσθήκη ετικέτας
Δεν υπάρχουν, Καταχωρήστε ετικέτα πρώτοι!
|