autosomal recessive disease

1. 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
2. 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。
3. Colour Blindness is a sex-linked recessive trait 20 times more common in men than in women. High-resolution Ultrasonography in the Assessment of Autosomal Recessive Polycystic Kidney Disease
   色盲是伴性隐性遗传疾病，男性发病率为女性的二十倍。高分辨超声在常染色体隐性遗传性多囊肾诊断中的价值
4. 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。
5. 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。
6. 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
7. 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。
8. 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
9. Although it is commonly considered to be an autosomal dominant heredity disease, there are still a few reports considering it as an autosomal recessive heredity disease.
   在遗传性质方面国内外论著大多将其划归为常染色体显性遗传，但也有报导常染色体隐性遗传者。
10. 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。
11. There is an agreement that autosomal recessive juvenile parkinsonism ( AR-JP) is a monogenic disease caused by mutation in parkin gene.
    一致的观念认为常染色体隐性遗传性青少年型帕金森综合症（AR-JP）是parkin基因突变引起的一种单基因遗传病。
12. 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。
13. 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。
14. 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；
15. 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
16. 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。
17. 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。
18. Keratoconus is an autosomal recessive inheritant disease, charactered by cornea distension. The center part of cornea extends anteriorly to form a conus, which deforms the cornea.
    圆锥角膜（Keratoconus）是一种常染色体隐性遗传病，病变以角膜扩张为特征，角膜中央部前凸呈圆锥形，致角膜变形和曲率增大。

noun

1. a disease caused by the presence of two recessive mutant genes on an autosome

   Synonym:    autosomal recessive defect