Isolated case — an individual who is the only member of his or her kindred affected by a genetic disorder, either by chance or by new mutation. See also sporadic.
一个家系中唯一的患病个体,可由上代遗传基因决定,也可由于新突变产生。参见散发。
Conclusion R492X nonsense mutation of PINK1 gene was rare in Chinese sporadic patients with PD.
结论PINK1基因R 492x无义突变不大可能是中国散发性帕金森病患者的突变热点。
Objective To explore the mutation of RET gene exon 11 in sporadic medullary thyroid carcinoma and to clarify the relationship between RET mutation and sporadic medullary thyroid carcinomas.
目的分析散发型甲状腺髓样癌RET基因第11外显子碱基序列,明确RET基因突变与散发型甲状腺髓样癌的关系。
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