1、

Result Two cases were definitely diagnosed, and this disease was autosomal recessive inherited disease.

结果2例病例得到准确诊断,本病为常染色体隐性遗传性疾病。

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2、

The clinical and genetic characteristics of autosomal recessive juvenile Parkinsonism in a Chinese family

青少年型帕金森综合征一个家系的临床及遗传学分析

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3、

Rare autosomal recessive inheritance has also been described.

据报道很少一部分为常染色体隐性遗传型。

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4、

Consanguineous marriage is often an important factor in autosomal recessive genetic disease, and inbreeding avoided can prevent this kind of disease.

近亲结婚往往是导致常染色体隐性遗传病的重要因素,避免近亲结婚可防止此类疾病的发生。

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5、

Conclusion: LP is an autosomal recessive disease, and the mutation of pathogenic gene of LP is rare in Chinese people.

结论:LP是一种罕见的常染色体隐性遗传病,中国人群中其致病基因的突变频率很低;

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6、

Lipid storage myopathy is one kind of autosomal recessive inherited disease with lipid abnormally sludging in the muscle cell.

脂质沉积性肌病是一种肌细胞内脂肪异常沉积引起的常染色体隐性遗传病。

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7、

Multiple carboxylase deficiency ( MCD ) is an autosomal recessive disorder of inherited metabolic diseases.

多种羧化酶缺陷症 ( MCD ) 是一种常染色体隐性遗传的先天遗传代谢性疾病.

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8、

Harlequin ichthyosis ( HI ) is a severe subtype of autosomal recessive congenital ichthyoses ( ARCI ) .

丑角样鱼鳞病是常染色体隐性遗传性鱼鳞病的一种严重 亚型.

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9、

It is a common occurrence in dogs and is thought to be a sex-limited autosomal recessive trait.

该疾病常发于犬,并被认为具有限性常染色体隐性遗传特征。

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12、

Bovine leukocyte adhesion deficiency ( BLAD) is autosomal recessive disease. The pathogeny of BLAD is genic mutation of CD18-integrins on the leukocyte.

牛白细胞粘附缺陷病(BLAD)是一种常染色体单基因隐性遗传疾病,病因为白细胞表面整合素CD18亚单位基因突变所致。

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13、

β-thalassemia and Spinal muscular atrophy ( SMA) are two common autosomal recessive diseases.

β地中海贫血和脊髓性肌萎缩是两种常见的单基因遗传病。

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14、
15、

An audiological analysis of four families with autosomal recessive hereditary hearing loss

隐性遗传性感音神经性聋隐性遗传性聋4家系听力学调查分析

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16、

Results In the 6 unrelated families of PD patients, 1 case had exon 5 deletion, its hereditary manner was autosomal recessive inheritance, the patient's age at the onset was 60 years old, clinical feature was tremor, rigidity and bradykinesia, but no athetosis.

结果6例患者中,发现1例有第5外显子缺失,其遗传模式呈常染色体隐性遗传,起病年龄60岁,临床表现为震颤、僵直和运动迟缓,但无异动症。

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17、

The inheritance pattern of EDMD includes X-linked recessive, autosomal dominant and recessive modes.

其遗传方式为X - 连锁隐性 、 染色体显性和隐性遗传.

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18、

The results of genetic analysis in this disease group suggest that hemochromatosis is an autosomal dominant inheritance but not autosomal recessive inheritance disease.

本组病例遗传方式分析结果,不支持常染色体隐性遗传,确定为常染色体显性遗传。

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