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。
2
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。
3
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.