CFTR gene variant IVS8-5T in disseminated bronchiectasis.
作者信息
Pignatti P F, Bombieri C, Benetazzo M, Casartelli A, Trabetti E, Gilè L S, Martinati L C, Boner A L, Luisetti M
出版信息
Am J Hum Genet. 1996 Apr;58(4):889-892.
Abstract
摘要
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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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CFTR gene variant for patients with congenital absence of vas deferens.先天性输精管缺如患者的CFTR基因变异体
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Increased incidence of cystic fibrosis gene mutations in adults with disseminated bronchiectasis.弥漫性支气管扩张症成年患者中囊性纤维化基因突变发生率增加。
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Cystic fibrosis transmembrane conductance regulator and obstructive azoospermia.
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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。
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