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Gene mutations are alterations in the DNA code.

基因突变是指DNA 密码的改变。

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Objective To identify the COL7A1 gene mutation in a family with dy strophic epidermolysis bullosa pruriginosa.

目的鉴定一营养不型大疱松解症家系的基因突变,为进一步开展基因诊断和基因治疗奠定基础。

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VOA慢速英语_科技

This tool was designed to study gene mutations that can cause human disease.

该工具旨在研究可能类疾病因突变。

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VOA Special 2022年8月合集

Such adaptations include gene mutations that shift the way penguins see the world.

这种适应包括改变企鹅看世界方式因突变。

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Osmosis-遗传

Finally, the diagnosis is confirmed by genetic testing to look for hemoglobin gene mutations.

最后,可以通过因检测寻找异常血红蛋白因进行确诊。

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Osmosis-内分泌

Genetic tests for known gene mutation associated with Kallmann syndrome can also be done.

也可对已知与Kallmann综合征相关因突变进行因检测。

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Osmosis-呼吸

In addition, there are new genetic technologies on the horizon aimed at correcting specific gene mutations.

此外,还可以预见新因治疗手段通过纠正特定突变来治疗疾病。

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CCTV 见闻

Based on research of white and brown coast pandas, this could be due to a gene mutation.

“根据对白和棕研究,这可能是因突变。

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Osmosis-血液肿瘤

The majority of individuals with the HMBS gene mutation and a deficiency of porphobilinogen deaminase are asymptomatic.

存在HMBS因突变及缺乏卟胆原脱氨酶群大部分没有症状。

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物杂志

She tested negative for the BRCA1 and BRCA2 gene mutation that increases a woman's risk of breast and ovarian cancer.

BRCA1和BRCA2因突变检测呈阴性,而这种因突变会增加女性患乳腺癌和卵巢癌风险。

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Osmosis-肌骨

Most of these gene mutations are deletions or duplications of one or more exons, and a small amount are point mutations.

因突变大多数为一个或多个外显子缺失或重复,小部分是点突变。

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Osmosis-神经

In fact, many different gene mutations have been identified each of which is known to cause different types of spinocerebellar ataxia.

实际上,目前已经鉴定出不因突变;每种突变都会类型脊髓小脑性共济失调。

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学生科学报

And it's all thanks to a gene mutation.

而这一切都要归功于因突变。

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《分钟地球》趣味科普

Take a hypothetical gene mutation that proves fatal during childhood.

假设一个在童年时期被证明是因突变。

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Osmosis-肌骨

Osteosarcoma is linked to RB1 and TP53 genes mutations, while Ewing sarcoma is thought to arise when there are EWSR1, and FLI1 genes mutation.

骨肉瘤与RB1和TP53因突变有关,尤因肉瘤被认为源于EWSR1和FLI1易位。

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Awesome Nature

Imagine a gene mutation creates a new color of hair.

想像一个新因变异创造出新发色。

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影视剧中医学知识

Abnormally, an egg could have two naturally occurring gene mutations that don't naturally occur together.

异常情况下,一个鸡蛋可能有两个自然发生因突变,但这些突变不会自然发生。

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2017级专外有声

These defects are the result of gene mutations sometimes caused by infectious viruses.

这些缺陷是有时由感染性病毒引起因突变结果。

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Osmosis-遗传

Genetic testing for HEX A gene mutations and sequencing of the HEX A gene are used for diagnosis and heterozygous carrier detection.

HEX-A突变因检测或HEX-A因测序等可用于诊断该病或发现杂合携带者。

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VOA Special 2019年7月合集

The results should ease fears that gene mutations alone decide one's brain health, said Rudy Tanzi, a genetics expert at Massachusetts General Hospital.

研究结果应该缓解了担忧,之前大家都担心只有因突变能决定脑部健康,鲁迪如是说道。

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TED演讲(音频版) 2021年11月合集

So gene therapies are fantastic for diseases that can be attributed to a single gene mutation or single root cause.

因此,对于可归因于单一因突变或单一根本原因疾病,因疗法非常有效。

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TED演讲(音频版) 2021年10月合集

There is clear evidence that a single gene mutation can lead to obesity, such as, for instance, leptin deficiency and POMC deficiency.

有明确证据表明,单个因突变会肥胖,例如瘦素缺乏和 POMC 缺乏。

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