Ophthalmic Genetics 2014-Dec
A novel rhodopsin point mutation, proline-170-histidine, associated with sectoral retinitis pigmentosa.
רק משתמשים רשומים יכולים לתרגם מאמרים
התחבר הרשם
הקישור נשמר בלוח
מילות מפתח
תַקצִיר
Identification and classification of all retinitis pigmentosa (RP) causing mutations contribute to a better understanding of disease variants. In this report we describe a New Zealand family, of European heritage, affected by a sectoral type RP phenotype in association with a novel rhodopsin mutation (proline-170-histidine) in a highly conserved site.