A novel mutation in GRK1 causes Oguchi disease in a consanguineous Pakistani family

PURPOSE: The purpose of this study was to identify the underlying molecular genetic defect in a large consanguineous Pakistani family with Oguchi disease who had been given a diagnosis of autosomal recessive retinitis pigmentosa. METHODS: The family was genotyped with the Affymetrix 10K single nucle...

תיאור מלא

שמור ב:
מידע ביבליוגרפי
Main Authors: Azam, Maleeha, Collin, Rob W.J., Khan, Muhammad Imran, Shah, Syed Tahir Abbas, Qureshi, Nadeem, Ajmal, Muhammad, den Hollander, Anneke I., Qamar, Raheel, Cremers, Frans P.M.
פורמט: Artigo
שפה:Inglês
יצא לאור: Molecular Vision 2009
נושאים:
Research Article
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC2742643/
https://ncbi.nlm.nih.gov/pubmed/19753316
תגים: הוספת תג
אין תגיות, היה/י הראשונ/ה לתייג את הרשומה!

פריטים דומים