CFTR gene variant for patients with congenital absence of vas deferens.
作者信息
Zielenski J, Patrizio P, Corey M, Handelin B, Markiewicz D, Asch R, Tsui L C
出版信息
Am J Hum Genet. 1995 Oct;57(4):958-60.
Abstract
摘要
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本文引用的文献
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Aetiology of congenital absence of vas deferens: genetic study of three generations.
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High frequency of the R117H cystic fibrosis mutation in patients with congenital absence of the vas deferens.先天性输精管缺如患者中R117H囊性纤维化突变的高频率。
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Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens.先天性输精管缺如患者囊性纤维化基因的突变。
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Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA.囊性纤维化跨膜传导调节因子mRNA中可变外显子9跳跃的遗传基础。
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5
Analysis of the whole CFTR coding regions and splice junctions in azoospermic men with congenital bilateral aplasia of epididymis or vas deferens.对患有先天性双侧附睾或输精管发育不全的无精子症男性的整个CFTR编码区和剪接位点的分析。
Hum Genet. 1994 Apr;93(4):467-70. doi: 10.1007/BF00201678.
6
A mutation in CFTR produces different phenotypes depending on chromosomal background.CFTR基因的突变会根据染色体背景产生不同的表型。
Nat Genet. 1993 Nov;5(3):274-8. doi: 10.1038/ng1193-274.
7
Nasal epithelial ion transport and genetic analysis of infertile men with congenital bilateral absence of the vas deferens.先天性双侧输精管缺如不育男性的鼻上皮离子转运及基因分析
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Autosomal recessive hereditary congenital aplasia of the vasa deferentia in four siblings.
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Genital abnormalities in male patients with cystic fibrosis.
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Congenital absence of the vasa deferentia presenting with infertility.先天性输精管缺如伴不育症。
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