[Analysis of gene mutation in a Chinese family with Norrie disease].

Abstract excerpt

OBJECTIVE: To detect the pathogenic mutation in a Chinese family with Norrie disease. METHODS: Clinical diagnosis was based on familial history, clinical sign and B ultrasonic examination. Peripheral blood samples were obtained from all available members in a Chinese family with Norrie disease. Genomic DNA was extracted from lymphocytes by the standard SDS-proteinase K-phenol/chloroform method. Two coding exons...

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