التفاصيل البيبلوغرافية
| العنوان: |
Role of the Pro23Leu mutation in a family affected by retinitis pigmentosa in the Basque Country. |
| المؤلفون: |
Alvarez, Ana I, Arostegui, Esteban, Martin, Rosa, Molina, Manuel, Duran, Mercedes, Tejada, Maria I |
| المصدر: |
Clinical Genetics; Nov99, Vol. 56 Issue 5, p408-409, 2p |
| مصطلحات موضوعية: |
RETINITIS pigmentosa, RHODOPSIN, POLYMERASE chain reaction, PHYSIOLOGY, DIAGNOSIS |
| مستخلص: |
Focuses on a case study that diagnosed retinitis pigmentosa (RP) patients for mutations in the rhodopsin gene using polymerase chain reaction, denaturing gradient gel electrophoresis, restriction analysis and sequencing. Description of the patients; Significance of the findings. |
| قاعدة البيانات: |
Complementary Index |
