autosomal的例句大全

Background and objective Benign familial neonatal convulsions ( BFNC) is a rare autosomal dominant inherited epileptic syndrome, characterized by unprovoked convulsions.

背景和目的良性家族性新生儿惊厥（Benign Familial Neonatal Convulsions，BFNC）是一种罕见的原发性癫痫综合征，呈常染色体显性遗传，患病率约为1／10万。

Objective To map the virulence gene for a family with coronary autosomal dominant congenital cataracts ( ADCC ).

目的初步定位具有花冠状表型的常染色体显性遗传性先天性白内障一家系的致病基因.

Van der Woude syndrome ( VWS, OMIM 119300) is an autosomal dominant craniofacial disorder characterized by pits of the lower lip, hypodontia and cleft lip and/ or cleft palate.

范德伍兹综合征（Van der Woude syndrome，VWS，OMIM119300）是一种常染色体显性遗传病。其特征是家族性下唇瘘复合唇裂或腭裂，1／4的患者伴有缺牙（Hypodontia）。

Background Familial benign chronic pemphigus or Hailey-Hailey disease ( HHD; OMIM 169600) is a rare autosomal dominant cutaneous disorder characterized by recurrent vesicles and erosions mainly in intertriginous areas.

研究背景：家族性慢性良性天疱疮，又称Hailey-Hailey病（HHD，OMIM169600）是一种罕见的常染色体显性遗传性皮肤病。

Osteogenesis imperfecta ( OMIM 166200) is an autosomal dominant disorder characterized by bone fragility and abnormalities of connective tissue.

成骨不全病（OMIM166200）是一种常染色体显性遗传病，其临床表现以骨折及结缔组织异常为特征。

Hepatolenticular degeneration ( HLD ) is an autosomal reoessively inherited disease caused by copper metabolic dysfunction.

肝豆状核变性 ( Hepatolenticulardegeneration,HLD ) 是一种铜代谢紊乱而引起的常染色体隐性遗传的疾病.

Owing to the influence of various complex factors, it is possible for the heterozygote of autosomal dominant inheritance to appear in different phenotypes.

由于各种复杂因素的影响，常染色体显性遗传的杂合子有可能出现不同的表现型，本文阐述了常染色体显性遗传的几种类型。

Objective: To detect gene mutations associated with autosomal dominant congenital stationary night blindness ( ADCSNB) in a large Chinese family.

目的：检测中国一常染色体显性先天性静止性夜盲（ADCSNB）大家系相关基因的致病性突变位点及此病临床表型特征。

Analysis of Full-Field Photopic Electroretinograms in Patients with Autosomal Dominant Congenital Stationary Night Blindness

显性遗传先天性静止性夜盲全视野明视ERG的分析

Parkin is a causative gene of autosomal recessive juvenile parkinsonism.

Parkin是隐性遗传性少年型帕金森病的致病基因。

The ac2+-Mg2+-ATPase activity of EH patients is distinctly defective and controled by genetic factors and transmitted in autosomal dominant inheritance.

EH患者钙泵活性明显改变，受遗传因素控制，是垂直传递，为常染色体显性遗传。

Conclusion: The essential hypertension is the human phenotype blemish caused by injured DNA. It is compatible with an autosomal dominant inheritance and its performance is delayed.

结论原发性高血压是由DNA损伤引起的人类表型缺陷，该病症符合常染色体显性遗传，具延迟外显性。

Approximately 25% of all cases are probably due to genetic defects, the majority of these inherited non-syndromic cataracts show autosomal dominant inheritance ( AD);

大约25%的先天性白内障与遗传缺陷有关。遗传性先天性白内障有三种不同的遗传方式：常染色体显性遗传（AD）、常染色体隐性遗传（AR）和X连锁隐性遗传（XR）。

Sex-limited autosomal dominant inheritance

性限常染色体显性遗传；限性常染色体显性遗传

Although previous hybridization tests proved that polydactyly trait belonged with an autosomal dominant inheritance but the penetrance is difference in offspring populations.

已有杂交试验证明鸡多趾性状为常染色体显性遗传但外显率不同。

Objective: To elucidate the molecular mechanism of neurofibromatosis type 2 ( NF2) with autosomal dominant inheritance disease in a Chinese kindred.

目的：探讨中国人常染色体显性遗传2型神经纤维瘤病的基因突变和分子诊断。

Multiple osteochondromas can occur either spontaneously an autosomal dominant disorder known as hereditary multiple exostoses.

多发骨软骨瘤可能是自发,也可能是常染色体显性遗传疾病—遗传性多发性外生骨疣病的表现.

Clinical features of autosomal recessive juvenile Parkinson disease

常染色体隐性遗传性青少年型帕金森病的临床特征

Mutation analysis of genes associated with autosomal recessive in early-onset parkinsonism

常染色体隐性遗传早发性帕金森综合征致病基因的突变分析

High-resolution Ultrasonography in the Assessment of Autosomal Recessive Polycystic Kidney Disease

高分辨率声呐部面仪高分辨超声在常染色体隐性遗传性多囊肾诊断中的价值