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。 - Suppr

Suppr

超能文献

Mild cystic fibrosis in child homozygous for G542 non-sense mutation in CF gene.

作者信息

Bonduelle M, Lissens W, Liebaers I, Malfroot A, Dab I

出版信息

Lancet. 1991 Jul 20;338(8760):189. doi: 10.1016/0140-6736(91)90181-n.

DOI:10.1016/0140-6736(91)90181-n

PMID:1712883

Abstract

摘要

相似文献

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.

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.

Two CF patients, one homozygous for the 621 + 1G > T splice mutation, the other homozygous for the 1898 + 1G > A splice mutation.两名囊性纤维化（CF）患者，一名为621+1G>T剪接突变纯合子，另一名为1898+1G>A剪接突变纯合子。

J Med Genet. 1995 Feb;32(2):158. doi: 10.1136/jmg.32.2.158.

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.

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.

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.

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.

A novel mutation (M1V) in the translation initiation codon of the cystic fibrosis transmembrane conductance regulator gene, in three CF chromosomes of Italian origin.在源自意大利的三条囊性纤维化跨膜传导调节因子基因染色体中，该基因翻译起始密码子出现一种新的突变（M1V）。

Hum Mol Genet. 1994 Aug;3(8):1431-2. doi: 10.1093/hmg/3.8.1431.

A specific cystic fibrosis mutation (T3381) associated with the phenotype of isolated hypotonic dehydration.

J Pediatr. 1995 Aug;127(2):281-3. doi: 10.1016/s0022-3476(95)70310-1.

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.

引用本文的文献

Mild pulmonary, but severe hepatic disease in a cystic fibrosis patient homozygous for a frameshift mutation in the regulatory domain of the CFTR.一名囊性纤维化患者，其CFTR调节域的移码突变纯合子，肺部疾病较轻，但肝脏疾病严重。

J Med Genet. 1993 May;30(5):446. doi: 10.1136/jmg.30.5.446.

Two cystic fibrosis patients with the genotype G542X/G551D.两名基因型为G542X/G551D的囊性纤维化患者。

Hum Genet. 1993 Mar;91(1):78-9. doi: 10.1007/BF00230228.

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.

Mild pulmonary disease in a cystic fibrosis child homozygous for R553X.一名患有R553X纯合子的囊性纤维化儿童的轻度肺部疾病。

J Med Genet. 1992 Aug;29(8):597. doi: 10.1136/jmg.29.8.597.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验