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MUTATIONS IN PDGFRB AND NOTCH3 AS CAUSES OF AUTOSOMAL DOMINANT INFANTILE MYOFIBROMATOSIS
MUTATIONS IN PDGFRB AND NOTCH3 AS CAUSES OF AUTOSOMAL DOMINANT INFANTILE MYOFIBROMATOSIS
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机译:PDGFRB和Notch3的突变是小儿肌纤维瘤的常染色体显性遗传
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摘要
This invention relates to a method of diagnosing a subject as having and/or being a carrier for infantile myofibromatosis. This method involves providing an isolated biological sample from a subject; contacting the sample with one or more reagents suitable for detecting the presence or absence of one or more mutations in PDGFRB and/or NOTCH3; detecting, in the sample, the presence or absence of the one or more mutations in PDGFRB and/or NOTCH3 based on said contacting; and diagnosing the subject as having and/or being a carrier for infantile myofibromatosis based on said detecting, where the presence of the one or more mutations in PDGFRB and/or NOTCH3 indicates the subject has a mutation that causes infantile myofibromatosis. Also disclosed is a method of treating a subject having infantile myofibromatosis and a method of preventing or treating symptoms associated with infantile myofibromatosis.
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