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Homozygous nonsense mutation causing cystic fibrosis with uniparental disomy.

作者信息

Beaudet A L, Perciaccante R G, Cutting G R

出版信息

Am J Hum Genet. 1991 Jun;48(6):1213.

PMID:2035541
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1683113/
Abstract
摘要

相似文献

1
Homozygous nonsense mutation causing cystic fibrosis with uniparental disomy.纯合无义突变导致囊性纤维化伴单亲二体。
Am J Hum Genet. 1991 Jun;48(6):1213.
2
Isodisomy of chromosome 7 in a patient with cystic fibrosis: could uniparental disomy be common in humans?一名囊性纤维化患者的7号染色体等臂双体：单亲二体在人类中会很常见吗？
Am J Hum Genet. 1989 Sep;45(3):373-80.
3
A cystic fibrosis patient homozygous for the new frameshift mutation 936delTA: description and clinical data.一名新的移码突变936delTA纯合子的囊性纤维化患者：病例描述及临床资料
J Med Genet. 1994 May;31(5):369-70. doi: 10.1136/jmg.31.5.369.
4
The cystic fibrosis locus.
Enzyme. 1987;38(1-4):8-13. doi: 10.1159/000469185.
5
Uniparental disomy, isodisomy, and imprinting: probable effects in man and strategies for their detection.单亲二体、同二体与印记：对人类可能产生的影响及其检测策略。
Am J Med Genet. 1991 Sep 15;40(4):432-9. doi: 10.1002/ajmg.1320400411.
6
The relation between genotype and phenotype in cystic fibrosis--analysis of the most common mutation (delta F508).囊性纤维化中基因型与表型的关系——最常见突变（ΔF508）的分析
N Engl J Med. 1990 Nov 29;323(22):1517-22. doi: 10.1056/NEJM199011293232203.
7
[Neurofibromatosis and cystic fibrosis: a case report].[神经纤维瘤病与囊性纤维化：一例报告]
Rev Neurol. 1999;29(7):604-6.
8
Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation.Silver-Russell综合征和原发性生长迟缓中的单亲二体7。
Hum Mol Genet. 1995 Apr;4(4):583-7. doi: 10.1093/hmg/4.4.583.
9
Uniparental disomy as a mechanism for human genetic disease.单亲二体作为人类遗传疾病的一种机制。
Am J Hum Genet. 1988 Feb;42(2):217-26.
10
Cystic fibrosis caused by homozygosity for the CFTR gene mutation 175insT.
Acta Paediatr. 1995 Oct;84(10):1199-200. doi: 10.1111/j.1651-2227.1995.tb13526.x.

引用本文的文献

1
Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations.囊性纤维化和CFTR相关疾病分子遗传学诊断的最佳实践指南——欧洲更新建议
Eur J Hum Genet. 2009 Jan;17(1):51-65. doi: 10.1038/ejhg.2008.136. Epub 2008 Aug 6.
2
The ratio of maternal to paternal UPD associated with recessive diseases.与隐性疾病相关的母源单亲二倍体与父源单亲二倍体的比例。
Hum Genet. 2005 Jul;117(2-3):288-90. doi: 10.1007/s00439-005-1311-2. Epub 2005 May 14.
3
Parents of children with autosomal recessive diseases are not always carriers of the respective mutant alleles.患有常染色体隐性疾病的孩子的父母并不总是相应突变等位基因的携带者。
Hum Genet. 2004 May;114(6):521-6. doi: 10.1007/s00439-004-1105-y. Epub 2004 Mar 16.
4
Rare etiology of autosomal recessive disease in a child with noncarrier parents.父母均非携带者的儿童患常染色体隐性疾病的罕见病因。
Am J Hum Genet. 2000 Sep;67(3):750-4. doi: 10.1086/303042. Epub 2000 Jul 27.
5
Williams syndrome starts making sense.威廉姆斯综合征开始说得通了。
Am J Hum Genet. 1996 Oct;59(4):756-61.
6
Severe pulmonary and digestive disease in a cystic fibrosis child homozygous for G542X.一名G542X纯合子囊性纤维化患儿的严重肺部和消化系统疾病
J Med Genet. 1994 Jan;31(1):84-5. doi: 10.1136/jmg.31.1.84-a.
7
Nonsense mutation R1162X of the cystic fibrosis transmembrane conductance regulator gene does not reduce messenger RNA expression in nasal epithelial tissue.囊性纤维化跨膜传导调节因子基因的无义突变R1162X不会降低鼻上皮组织中的信使核糖核酸表达。
J Clin Invest. 1993 Dec;92(6):2683-7. doi: 10.1172/JCI116885.
8
Severe deficiency of cystic fibrosis transmembrane conductance regulator messenger RNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis.携带无义突变R553X和W1316X的囊性纤维化跨膜传导调节因子信使核糖核酸在囊性纤维化患者呼吸道上皮细胞中的严重缺乏。
J Clin Invest. 1991 Dec;88(6):1880-5. doi: 10.1172/JCI115510.
9
Nine cystic fibrosis patients homozygous for the CFTR nonsense mutation R1162X have mild or moderate lung disease.9名携带CFTR无义突变R1162X的纯合子囊性纤维化患者患有轻度或中度肺部疾病。
J Med Genet. 1992 Aug;29(8):558-62. doi: 10.1136/jmg.29.8.558.

本文引用的文献

1
Uniparental disomy as a mechanism for human genetic disease.单亲二体作为人类遗传疾病的一种机制。
Am J Hum Genet. 1988 Feb;42(2):217-26.
2
Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene.在与囊性纤维化基因的两个假定核苷酸（ATP）结合折叠相对应的区域中鉴定突变。
Proc Natl Acad Sci U S A. 1990 Nov;87(21):8447-51. doi: 10.1073/pnas.87.21.8447.
3
Two patients with cystic fibrosis, nonsense mutations in each cystic fibrosis gene, and mild pulmonary disease.两名患有囊性纤维化的患者，每个囊性纤维化基因都存在无义突变，且患有轻度肺部疾病。
N Engl J Med. 1990 Dec 13;323(24):1685-9. doi: 10.1056/NEJM199012133232407.
4
The relation between genotype and phenotype in cystic fibrosis--analysis of the most common mutation (delta F508).囊性纤维化中基因型与表型的关系——最常见突变（ΔF508）的分析
N Engl J Med. 1990 Nov 29;323(22):1517-22. doi: 10.1056/NEJM199011293232203.