| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 5906605 | Gene | 2013 | 4 Pages |
Abstract
⺠The molecular analysis of an atypical form of retinitis pigmentosa is presented. ⺠A rhodopsin missense mutation was identified in this familial case. ⺠Intrafamilial clinical heterogeneity was observed among family members. ⺠The benefits of phenotypically-guided molecular screening are stressed.
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Genetics
Authors
David Rivera-De la Parra, Jesus Cabral-Macias, Margarita Matias-Florentino, Gabriela Rodriguez-Ruiz, Violeta Robredo, Juan Carlos Zenteno,