autosomal的例句大全

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

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。

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

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。

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。

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；

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。

Clinical and molecular characterization of a family with autosomal recessive cornea plana

一个常染色体隐性遗传性扁平角膜家族的临床和分子学特征

Family investigation result in, X-Chromosom sex linked inheritance dominant in 1 cases, Rarely inheritance recessive in 3 cases ( autosomal recessive inheritance in 2 case, X-chromosom sex linked recessive inheritance in 1 case), no report in china.

家系调查结果：显性遗传1例，稀有的隐性遗传3例，国内尚未见报导。

Among 19 cases autosomal abnormal are 14 cases, sex chromosome abnormal are 5 cases.

其中，常染色体异常14例，性染色体异常5例。

Objective To elucidate the pathogenic genes in a pedigree with autosomal dominant ichthyosis vulgaris ( IV ) .

目的研究一常染色体显性遗传寻常型鱼鳞 病家 系的致病基因.

Neurofibromatosis is an autosomal dominant genetic disease, which also named as Von Recklinghausen disease before.

神经纤维瘤病, 以前又称vonRecknn沙ausen病,属常染色体显性遗传病.

Conclusion: EXT is an autosomal dominant disorder and the penetrance is 97 % in this report.

结论: 证实EXT为常染色体显性遗传病,本组外显率为97%.

With pedigree analysis, the genetic mode of the disease in the family are autosomal dominant inheritance.

据系谱分析, 该疾病符合常染色体显性遗传方式.

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.

Gene mutations in human gene can cause various diseases. The human autosomal dominant brachydactyly type B ( BDB) and autosomal dominant polycystic kidney disease ( PKD) are due to gene mutation on chromosome.

人类基因组上基因的突变可以引起各种各样疾病的发生，人的常染色体显性的B型短指和常染色体显性的多囊肾综合症就是由于染色体上的基因突变引起的。

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。

Citrin deficiency is inherited in an autosomal recessive manner.

希特林缺乏综合征是一种常染色体隐性遗传性疾病。

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。

WD is a common autosomal recessive inherited neuropathy, whose only pathogenic gene is ATP7B.

WD是神经科较为常见的常染色体隐性遗传病，其唯一致病基因为ATP7B基因。