Severe pulmonary and digestive disease in a cystic fibrosis child homozygous for G542X.
作者信息
Desgeorges M, Laussel M, Rollin B, Demaille J, Claustres M
出版信息
J Med Genet. 1994 Jan;31(1):84-5. doi: 10.1136/jmg.31.1.84-a.
Abstract
摘要
相似文献
1
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.
2
Mild cystic fibrosis in child homozygous for G542 non-sense mutation in CF gene.患有CF基因G542无义突变纯合子的儿童出现轻度囊性纤维化。
Lancet. 1991 Jul 20;338(8760):189. doi: 10.1016/0140-6736(91)90181-n.
3
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.
4
5
Severe liver impairment in a cystic fibrosis-affected child homozygous for the G542X mutation.一名患有囊性纤维化且为G542X突变纯合子的儿童出现严重肝功能损害。
Am J Med Genet. 1997 Mar 17;69(2):155-8. doi: 10.1002/(sici)1096-8628(19970317)69:2<155::aid-ajmg7>3.0.co;2-o.
6
Severe cystic fibrosis in a child homozygous for the G542 nonsense mutation in the CFTR gene.一名儿童因CFTR基因中G542无义突变而纯合，患有严重囊性纤维化。
J Med Genet. 1993 Jul;30(7):621-2. doi: 10.1136/jmg.30.7.621-c.
7
CFTR nonsense mutations G542X and W1282X associated with severe reduction of CFTR mRNA in nasal epithelial cells.与鼻上皮细胞中CFTR mRNA严重减少相关的CFTR无义突变G542X和W1282X。
Hum Mol Genet. 1992 Oct;1(7):542-4. doi: 10.1093/hmg/1.7.542.
8
Radiological analysis of children with cystic fibrosis who are homozygous for cystic fibrosis transmembrane conductance regulator mutation S549R (T-->G).对囊性纤维化跨膜传导调节因子突变S549R（T→G）纯合的囊性纤维化儿童的放射学分析。
J Trop Pediatr. 1999 Jun;45(3):158-60. doi: 10.1093/tropej/45.3.158.
9
Male infertility as the only presenting sign of cystic fibrosis when homozygous for the mild mutation R117H.当纯合携带轻度突变R117H时，男性不育作为囊性纤维化的唯一表现症状。
J Med Genet. 1993 Sep;30(9):797. doi: 10.1136/jmg.30.9.797.
10
Heterogeneity of phenotype in two cystic fibrosis patients homozygous for the CFTR exon 11 mutation G551D.两名囊性纤维化患者均为CFTR外显子11突变G551D的纯合子，其表型存在异质性。
J Med Genet. 1996 Aug;33(8):711-3. doi: 10.1136/jmg.33.8.711.
本文引用的文献
1
Severe cystic fibrosis in a child homozygous for the G542 nonsense mutation in the CFTR gene.一名儿童因CFTR基因中G542无义突变而纯合，患有严重囊性纤维化。
J Med Genet. 1993 Jul;30(7):621-2. doi: 10.1136/jmg.30.7.621-c.
2
Analysis of the 27 exons and flanking regions of the cystic fibrosis gene: 40 different mutations account for 91.2% of the mutant alleles in southern France.囊性纤维化基因27个外显子及侧翼区域分析：在法国南部，40种不同突变占突变等位基因的91.2%。
Hum Mol Genet. 1993 Aug;2(8):1209-13. doi: 10.1093/hmg/2.8.1209.
3
Premature translation termination mediates triosephosphate isomerase mRNA degradation.提前翻译终止介导磷酸丙糖异构酶mRNA降解。
Mol Cell Biol. 1988 Feb;8(2):802-13. doi: 10.1128/mcb.8.2.802-813.1988.
4
Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction.利用聚合酶链反应快速灵敏地检测点突变和DNA多态性。
Genomics. 1989 Nov;5(4):874-9. doi: 10.1016/0888-7543(89)90129-8.
5
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.
6
A child, homozygous for a stop codon in exon 11, shows milder cystic fibrosis symptoms than her heterozygous nephew.一名儿童，其11号外显子中的终止密码子为纯合子，相较于她的杂合子侄子，囊性纤维化症状较轻。
J Med Genet. 1990 Nov;27(11):717-9. doi: 10.1136/jmg.27.11.717.
7
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.
8
Cystic fibrosis in Bulgaria.保加利亚的囊性纤维化
J Med Genet. 1991 Nov;28(11):807. doi: 10.1136/jmg.28.11.807.
9
Mild cystic fibrosis in child homozygous for G542 non-sense mutation in CF gene.患有CF基因G542无义突变纯合子的儿童出现轻度囊性纤维化。
Lancet. 1991 Jul 20;338(8760):189. doi: 10.1016/0140-6736(91)90181-n.
10
A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein.囊性纤维化跨膜传导调节蛋白第一个核苷酸结合结构域中的一簇囊性纤维化突变。
Nature. 1990 Jul 26;346(6282):366-9. doi: 10.1038/346366a0.
Zotero 插件