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METHODS OF DIAGNOSING AND TREATING MEDULLARY CYSTIC KIDNEY DISEASE
METHODS OF DIAGNOSING AND TREATING MEDULLARY CYSTIC KIDNEY DISEASE
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机译:诊断和治疗弥漫性囊性肾病的方法
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摘要
The present invention features a highly sensitive assay for detecting frameshift mutations for high throughput use. Also provided herein are methods for diagnosing or determining a predisposition for developing medullary cystic kidney disease type 1 (MCKD1) in a subject by detecting a frameshift mutation in the GC-rich variable number of tandem repeats (VNTR) sequence of the mucin 1 gene (MUC-1).
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