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No other sarcomere gene mutations identified in the remaining probands caused apical HCM in other family members.
并没有在其余的患者发现别的肌节蛋白基因突变以造成其他家庭成员的心尖肥厚型心肌病。
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Clinical evaluations demonstrated familial disease in 6 of 11 probands with sarcomere gene mutations.
经过临床调查证实,11个先证者有6个有肌节基因突变。
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Approximately 1% of mutations occur de novo ; thus, 1% of probands have only one parent who is heterozygous.
约1%的突变是新生突变;因此,1%的先证者只有一个杂合子的父母。
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In OXASC, detailed family history was aailable in 806 (93%) probands.
结果:在XOASC中,806例(93%)先证者有详细的家族史。
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A T/C polymorphism was identified in exon 1 of the GUCA1B gene in 31 of the 120 probands.
结果表明,31人的GUCA1B基因外显子1存在T/C多态。
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