autosomal recessive

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。

The results of segregation analysis indicate that the genetic pattern of UU multiplex families and UA group is autosomal recessive.

分离分析结果显示，U×U多发家庭组和U×A家庭组可以接受常染色体隐性遗传的假设；

The recurrence risk for this disease is, of course, 25% because of the autosomal recessive inheritance pattern.

因为它是常染色体隐性遗传的，所以它在家族中的发病率是25%。

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。

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。

Autosomal recessive polycystic kidnay disease: clinical, pathological and radiological correlations

常染色体隐性遗传性多囊肾病：临床、病理与影像学表现

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。

A study of DJ-1 gene in 3 pedigrees with autosomal recessive early-onset Parkinson's disease

常染色体隐性遗传早发型帕金森病家系的DJ-1基因研究

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

The Proportion and Clinical Feature of Duchenne Muscular Dystrophy With Autosomal Recessive Inheritance

常染色体隐性遗传的类Duchenne肌营养不良临床特征及其发生比率的估计值分析

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

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。

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.

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

A rare autosomal recessive disease in which the platelets do not produce clots in the normal way and hemorrhage results.

一种罕见的常染色体退缩疾病，症状是血小板不能正常凝固导致流血不止。

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。

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。

TH gene mutation in Chinese patients with autosomal recessive dopa-responsive dystonia

中国人常染色体隐性遗传性多巴反应性肌张力障碍TH基因突变分析

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。

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。

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。

Genotype and phenotype analyses of three families with autosomal recessive juvenile parkinsonism

三个常染色体隐性遗传性青少年型帕金森综合征家系的基因型与表型分析

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

Objective To explore the clinical features of autosomal recessive juvenile Parkinson disease ( AR-JP).

目的探讨常染色体隐性遗传性青少年型帕金森病（AR-JP）的临床特征。

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。

Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation

伴共济失调和智力发育迟缓的常染色体隐性遗传的进行性肌阵挛性癫痫

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；

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；

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.