The disease is autosomal-recessive and linked to the X-chromosome, so that men whose mothers are carriers of the gene manifest the disease.
该病属常染色体隐性遗传，与X-染色体关联，所以，母亲是基因携带者的男性表现为发病。
Trapped Neutrophil Syndrome is an autosomal recessive disease which results in mature neutrophils being unable to migrate from the bone marrow into the blood.
遗传性嗜中性白血球减少症是一种常染色体隐性遗传疾病，该疾病导致成体中性粒细胞无法从骨髓迁移到血液中。
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cd 18亚单位基因突变所致。
Maple syrup urine disease (MSUD), or branched-chain ketoaciduria, is an autosomal recessive disorder of branched-chain amino acid metabolism.
枫糖尿症是支链氨基酸代谢异常的体染色体隐性遗传疾病。
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％。
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。
Objective: to analyze the relationship between the genotype and phenotype of autosomal dominant polycystic kidney disease (ADPKD) in Han nationality in East China.
目的：研究华东地区汉族人常染色体显性遗传性多囊肾病(adpkd)基因型与临床表现型的关系。
Klinefelter syndrome is still the most common chromosomal disease, balanced translocation accounts for largest proportion of autosomal abnormality.
克氏症仍是最常见的染色体疾病，染色体平衡易位核型占常染色体异常核型比例最大。
Objective:To detect the possible relationship between DJ-1 gene and the Chinese 3 pedigrees with autosomal recessive early-onset Parkinson s disease(AREP).
前言： 目的：探讨DJ-1基因与中国人常染色体隐性遗传早发型帕金森病（AR EP）家系的关系。
Familial hypertrophic cardiomyopathy (FHCM) is a genetically heterogeneous cardiac disease transmitted as an autosomal dominant trait. It is the leading cause of sudden cardiac death (SCD) in youth.
家族性肥厚型心肌病是一种以常染色体显性遗传为特征的具有遗传异质性的心脏疾病，它是年轻人心源性猝死的首要病因。
An investigation of a genetic Blepharostenosis family was reported. It was proved that the disease was congenital eyelid syndrome and autosomal dominant inheritance.
报道了一个遗传性小眼症家系的调查结果，该家系属于先天性睑裂狭小综合症，为常染色体显性遗传。
Autosomal recessive polycystic kidney disease etiology is mainly because the parents with congenital genetic, so in infancy began to sicken.
常染色体隐性遗传型多囊肾的病因主要是因为父母先天性的遗传，所以在婴儿期就开始发病。
Mutations in the corresponding ATM gene result in ataxia telangiectasia (at), an autosomal recessive disease characterized by uncoordinated muscle movement and neurodegeneration.
AT M基因突变可导致共济失调毛细血管扩张症(AT)，一种常染色体隐性遗传病，该病特点是不协调的肌肉运动和神经退化。
Infantile polycystic kidney disease and autosomal recessive polycystic kidney disease, is the two kind of polycystic kidney in a kind.
婴儿型多囊肾又叫常染色体隐性遗传型多囊肾，是两种多囊肾中的一种。
Hereditary hemorrhagic telangiectasia is an uncommon autosomal dominant inheritance disease. 25 cases from a family were reported. The pathology, clinical presentation and treatment were discussed.
遗传出血性毛细血管扩张症为常染色体显性遗传病，临床少见，本文就其病理变化、临床特点进行讨论，探讨其治疗方法。附一家系25例分析。
Objective: cyst lining epithelial cell proliferation and apoptosis are implicated in the pathogenesis of cyst formation in autosomal dominant polycystic kidney disease (ADPKD).
目的：研究多囊肾病囊肿衬里上皮的增生与凋亡及相关蛋白表达。
68% including 16 cases of autosomal recessive polycystic kidney disease ARPKD 34.
包括常染色体隐性遗传多囊肾病ARPKD16例34。
Autosomal recessive polycystic kidney disease also known as infantile polycystic kidney disease, polycystic kidney in the rare type.
常染色体隐性遗传性多囊肾又称婴儿型多囊肾，为多囊肾中少见类型。
Autosomal recessive polycystic kidney disease also known as infantile polycystic kidney disease, polycystic kidney in the rare type.
常染色体隐性遗传性多囊肾又称婴儿型多囊肾，为多囊肾中少见类型。
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