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。
Genetics: Associated with mutation of the GNAQ gene, almost always sporadic (familial inheritance pattern is exceedingly rare).
遗传学:和GNAQ基因突变有关,散发,家族性遗传极其罕见。
Objective:To explore the mutation of receptor tyrosine kinase ( RET ) gene in sporadic medullary thyroid carcinoma.
目的:研究散发型甲状腺髓样癌酪氨酸激酶受体基因(RET)的突变情况。
Objective To investigate the mutation of Von Hippel-Ldau(VHL)tumor suppressor gene in peatients with primary sporadic human renal cell carcinoma(RCC).
目的探讨国人原发性散发性肾透明细胞癌中VHL抑癌基因突变及其意义。
CONCLUSIONS: The mutation of SDHB exists in sporadic paragangliomas patients and it might play a significant role in paragangliomas tumorigenesis.
结论:散发性副神经节瘤患者中存在SDHB基因突变,可能与副神经节瘤的发生有关。
CONCLUSIONS: The mutation of SDHB exists in sporadic paragangliomas patients and it might play a significant role in paragangliomas tumorigenesis.
结论:散发性副神经节瘤患者中存在SDHB基因突变,可能与副神经节瘤的发生有关。
应用推荐