A new mutation in the CFTR gene, composed of two adjacent DNA alterations, is a common cause of cystic fibrosis among Georgian Jews.

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作者信息

Shoshani T, Berkun Y, Yahav Y, Augarten A, Bashan N, Rivlin Y, Gazit E, Sereth H, Kerem E, Kerem B S

机构信息

Department of Genetics, Hebrew University, Jerusalem, Israel.

出版信息

Genomics. 1993 Jan;15(1):236-7. doi: 10.1006/geno.1993.1046.

DOI:10.1006/geno.1993.1046

PMID:7679367

Abstract

摘要

相似文献

A new mutation in the CFTR gene, composed of two adjacent DNA alterations, is a common cause of cystic fibrosis among Georgian Jews.

Genomics. 1993 Jan;15(1):236-7. doi: 10.1006/geno.1993.1046.

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Complex mutation 4114 ATA-->TT in exon 22 of the cystic fibrosis gene CFTR.

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delta F508 cystic fibrosis mutation appears very infrequently in the Greek-Cypriot community of Cyprus.

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Identification of a new frameshift mutation (3724 delG) in exon 19 of the CFTR gene.在囊性纤维化跨膜传导调节因子（CFTR）基因第19外显子中鉴定出一种新的移码突变（3724delG）。

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A sequence variation in intron 17B of the cystic fibrosis transmembrane conductance regulator gene.囊性纤维化跨膜传导调节因子基因第17B内含子中的序列变异。

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引用本文的文献

Extended haplotype analysis of cystic fibrosis mutations and its implications for the selective advantage hypothesis.囊性纤维化突变的扩展单倍型分析及其对选择性优势假说的影响。

Hum Genet. 1993 Oct 1;92(3):289-95. doi: 10.1007/BF00244474.

Highly variable incidence of cystic fibrosis and different mutation distribution among different Jewish ethnic groups in Israel.以色列不同犹太族群中囊性纤维化的发病率差异很大，且突变分布不同。

Hum Genet. 1995 Aug;96(2):193-7. doi: 10.1007/BF00207378.

CFTR haplotype analysis reveals genetic heterogeneity in the etiology of congenital bilateral aplasia of the vas deferens.囊性纤维化跨膜传导调节因子单倍型分析揭示先天性双侧输精管缺如病因中的遗传异质性。

Am J Hum Genet. 1995 Jun;56(6):1359-66.

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