However, he said, understanding the molecular nature of this single genetic defect, which is at the root of a familial form of such a complex disease, offers invaluable clues.

然而，他又说，理解单个遗传缺陷的分子本质，其是如此复杂疾病的一种家族性形式的根源，提供了无价的线索。

youdao

If a disease has a genetic basis, it will occur in familial aggregates.

如果一种疾病有遗传基础，它将以家族聚集性的方式发生。

youdao

Hypertrophic cardiomyopathy is not related to ischemic heart disease but 50% of cases are familial and may be related to genetic mutations in genes encoding for cardiac contractile elements.

肥厚性心肌病与缺血性心脏病无关，但是50%的病例具有家族性并且与基因突变有关。突变基因一般为心脏收缩过程先关基因。

youdao

Thursday, Isis announced trials that could get mipomersen approved in the rare genetic disease familial hypercholesterolemia (FH).

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The ENHANCE study was conducted in 720 patients with heterozygous familial hypercholesterolemia, a genetic disease that can boost untreated cholesterol levels above 300.

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The vote was close, with 9 for approval and 6 against, and only for treatment in a rare genetic disease called homozygous familial hypercholesterolemia (HoFH).

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