斯洛文尼亚人群中一种罕见囊性纤维化突变（S4X）的鉴定。 - Suppr

Identification of a rare cystic fibrosis mutation (S4X) in a Slovenian population.

作者信息

Glavac D, Ravnik-Glavac M, Dean M

机构信息

Biological Carcinogenesis and Development Program, National Cancer Institute, Frederick Cancer Research and Development Center, MD 21702-1201.

出版信息

Hum Mol Genet. 1993 Mar;2(3):315-6. doi: 10.1093/hmg/2.3.315.

DOI:10.1093/hmg/2.3.315

PMID:7684643

Abstract

摘要

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Identification of a rare cystic fibrosis mutation (S4X) in a Slovenian population.斯洛文尼亚人群中一种罕见囊性纤维化突变（S4X）的鉴定。

Hum Mol Genet. 1993 Mar;2(3):315-6. doi: 10.1093/hmg/2.3.315.

Identification of three novel mutations (457 TAT-->G, D192G, Q685X) in the Slovenian CF patients.斯洛文尼亚囊性纤维化患者中三个新突变（457 TAT-->G、D192G、Q685X）的鉴定。

Hum Genet. 1994 Jun;93(6):659-62. doi: 10.1007/BF00201566.

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。

Hum Mutat. 1992;1(3):258-9. doi: 10.1002/humu.1380010313.

Identification of a novel nonsense mutation (L88X) in exon 3 of the cystic fibrosis transmembrane conductance regulator gene in a native Korean cystic fibrosis chromosome.

Hum Mutat. 1992;1(6):501-2. doi: 10.1002/humu.1380010608.

Identification of a new splicing mutation (406-1 G-C) in the CFTR gene.

Hum Mutat. 1992;1(5):432-3. doi: 10.1002/humu.1380010515.

Two novel frame-shift mutations: 977 insA in exon 6B, and 4016 insT in exon 21, of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

Hum Mol Genet. 1993 Mar;2(3):317-9. doi: 10.1093/hmg/2.3.317.

Identification of a new frameshift mutation and a duplication polymorphism in the CFTR gene in the Algerian population.

Hum Mol Genet. 1992 Jul;1(4):283-4. doi: 10.1093/hmg/1.4.283.

Mutation analysis in 600 French cystic fibrosis patients.对600名法国囊性纤维化患者的突变分析。

J Med Genet. 1994 Jul;31(7):541-4. doi: 10.1136/jmg.31.7.541.

Molecular and genetic analyses at the CF locus.

Adv Exp Med Biol. 1991;290:39-43; discussion 43-4. doi: 10.1007/978-1-4684-5934-0_5.

Mutational analysis of 30 Slovenian cystic fibrosis patients compared to known Slovenian and European CF mutation spectra.

Pflugers Arch. 2000;439(3 Suppl):R63-5.

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Rare Trafficking CFTR Mutations Involve Distinct Cellular Retention Machineries and Require Different Rescuing Strategies.罕见的 CFTR 突变涉及不同的细胞内滞留机制，需要不同的挽救策略。

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A comprehensive overview of the cystic fibrosis on the island of São Miguel (Azores, Portugal).圣米格尔岛（葡萄牙亚速尔群岛）囊性纤维化的全面概述。

BMC Pediatr. 2020 Jan 3;20(1):2. doi: 10.1186/s12887-019-1903-y.

Identification of three novel mutations (457 TAT-->G, D192G, Q685X) in the Slovenian CF patients.斯洛文尼亚囊性纤维化患者中三个新突变（457 TAT-->G、D192G、Q685X）的鉴定。

Hum Genet. 1994 Jun;93(6):659-62. doi: 10.1007/BF00201566.

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Identification of a rare cystic fibrosis mutation (S4X) in a Slovenian population.

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