结论直接基因测序分析能在基因水平诊断MTC,分子遗传学分析使术前诊断该疾病成为可能。
Conclusion MTC can be diagnosed at gene level by direct gene sequencing analysis. It is possible to diagnose MTC before operation by means of molecular genetic analysis.
结果表型,病理心理和分子遗传学分析的53个渊源与临床特征的脆性X综合征和10名女性运营商提出。
Results of phenotypical, patho-psychological and molecular-genetic analysis of the 53 probands with clinical features of the fragile X syndrome and 10 female carriers are presented.
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