1、

In families, The inheritance patterns are autosomal dominant, autosomal recessive or X-linked recessive.

在家族中,致病基因可以常染色体显性、常染色体隐性或X连锁遗传的方式传递。

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2、

By segregation analysis of recessive inheritance, 23 cases of 12 pedigree suffering from spinal muscular atrophy fit autosomal recessive inheritance.

隐性遗传分离分析表明,12个家系23例患儿发病方式符合常染色体隐性遗传。

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3、

It is universally recognized that the mode of EV transmission may likely be autosomal recessive, but autosomal dominant and X-linked recessive inheritance have also been reported.

通常认为EV是一种常染色体隐性遗传病,但是也有常染色体显性遗传及x连锁隐形遗传等多种遗传方式的报道,揭示了其遗传异质性。

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4、

High degree of genetic and clinical heterogeneity makes RP very complex. The mode of heritance can include autosomal dominant, autosomal recessive, X-linked, digenic and sporadic.

RP具有高度的遗传异质性和临床异质性,有散发、常染色体显性、常染色体隐性、X连锁遗传和双基因遗传等多种遗传方式。

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5、

Hemochromatosis, the common autosomal recessive disease of iron overload, affects at least 1 in 300 Caucasians.

遗传性血色素沉着症是一种常染色体隐性遗传性铁异常沉积性疾病,高加索群体中发病率高,平均不到300人就有一个是该病患者。

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6、

There are three kinds of inherited patterns including autosomal dominant, autosomal recessive and X-linked recessive in inherited congenital cataract.

与遗传有关的先天性白内障有多种遗传方式,其致病基因、基因突变的位点和引起先天性白内障的表现型相继被发现。

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7、

Background and purpose: Congenital adrenal hyperplasia ( CAH) is a group of autosomal recessive disorder. It is one of the commonest genetic endocrinological diseases.

背景与目的:先天性肾上腺增生症(congenital adrenal hyperplasia,CAH)是一组常染色体隐形遗传疾病,是最常见的遗传性内分泌疾病之一。

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8、

Mutations in the cardiac sodium channel gene SCN5A also cause cardiac conduction disease and autosomal recessive sick sinus syndrome ( SSS).

心脏钠离子通道基因SCN5A的突变也可导致心脏传导疾病和常染色体隐性病态窦房结综合征(SSS)。

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9、

Spinal muscular atrophy in childhood is one of the most common neuromuscular disorders with an autosomal recessive mode of inheritance.

儿童型脊髓性肌萎缩症是常见的遗传性神经肌肉病,为常染色体隐性遗传。

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10、

By descriptive statistics, the study suggested that the suicidal behavior in patients with bipolar depressive disorder, neither accorded with the model of autosomal dominant inheritance, no accorded with autosomal recessive inheritance, or the model of sex-liked inheritance.

经分离分析表明本组双相抑郁症自杀行为不符合单基因常染色体显性遗传,不符合单基因常染色体隐性遗传,亦不符合性连锁遗传;

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12、

cbas usually occurred by autosomal recessive inheritance, due to various enzymes defect in bile acid synthesis.

CBAS多属于常染色体隐性遗传,由胆汁酸合成过程中的酶缺陷所致。

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13、

Citrullinemia is an autosomal recessive inherited defect resulted in the urea cycle disorder in Holstein Dairy cattle.

瓜氨酸血症(Citrullinemia)是荷斯坦牛尿素循环发生代谢紊乱的一种常染色体隐性遗传缺陷。

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14、

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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15、

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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17、

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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18、

Autosomal recessive inheritance was difficult to be evaluated because of few families remained.

常染色体隐性遗传因剩下的家系样本太少,难以预测;

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19、

Wilson ′ s disease is a autosomal recessive inherited disease characteristic by metabolic disorder of copper.

肝豆状核变性是一种铜代谢障碍的常染色体隐性遗传病。

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20、

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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