在两名腺苷脱氨酶严重联合免疫缺陷（ADA - SCID）患者中鉴定出两个新的错义突变（R156C和S291L），这两名患者对部分换血疗法的反应异常。 - Suppr

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超能文献

Identification of two new missense mutations (R156C and S291L) in two ADA- SCID patients unusual for response to therapy with partial exchange transfusions.

作者信息

Hirschhorn R

机构信息

Department of Medicine, New York University Medical School, New York 10016.

出版信息

Hum Mutat. 1992;1(2):166-8. doi: 10.1002/humu.1380010214.

DOI:10.1002/humu.1380010214

PMID:1284479

Abstract

摘要

相似文献

Identification of two new missense mutations (R156C and S291L) in two ADA- SCID patients unusual for response to therapy with partial exchange transfusions.在两名腺苷脱氨酶严重联合免疫缺陷（ADA - SCID）患者中鉴定出两个新的错义突变（R156C和S291L），这两名患者对部分换血疗法的反应异常。

Hum Mutat. 1992;1(2):166-8. doi: 10.1002/humu.1380010214.

Five missense mutations at the adenosine deaminase locus (ADA) detected by altered restriction fragments and their frequency in ADA--patients with severe combined immunodeficiency (ADA-SCID).通过改变的限制性片段在腺苷脱氨酶基因座（ADA）检测到的五个错义突变及其在严重联合免疫缺陷（ADA-SCID）患者中的频率。

Am J Med Genet. 1992 Jan 15;42(2):201-7. doi: 10.1002/ajmg.1320420213.

Molecular basis of adenosine deaminase deficiency.腺苷脱氨酶缺乏症的分子基础。

Immunodeficiency. 1994;5(2):141-57.

Severe combined immunodeficiency of reduced severity due to homozygosity for an adenosine deaminase missense mutation (Arg253Pro).由于腺苷脱氨酶错义突变（Arg253Pro）纯合导致的严重程度降低的重症联合免疫缺陷。

Cell Immunol. 1993 Dec;152(2):383-93. doi: 10.1006/cimm.1993.1299.

Carrier frequency of a nonsense mutation in the adenosine deaminase (ADA) gene implies a high incidence of ADA-deficient severe combined immunodeficiency (SCID) in Somalia and a single, common haplotype indicates common ancestry.腺苷脱氨酶（ADA）基因无义突变的携带者频率表明索马里ADA缺乏型重症联合免疫缺陷病（SCID）的发病率很高，且单一、常见的单倍型表明存在共同祖先。

Ann Hum Genet. 2007 May;71(Pt 3):336-47. doi: 10.1111/j.1469-1809.2006.00338.x. Epub 2007 Dec 19.

Novel splicing, missense, and deletion mutations in seven adenosine deaminase-deficient patients with late/delayed onset of combined immunodeficiency disease. Contribution of genotype to phenotype.7例腺苷脱氨酶缺陷型联合免疫缺陷病迟发/延迟发病患者中的新型剪接、错义及缺失突变。基因型对表型的影响。

J Clin Invest. 1993 Nov;92(5):2291-302. doi: 10.1172/JCI116833.

A missense mutation in exon 4 of the human adenosine deaminase gene causes severe combined immunodeficiency.人类腺苷脱氨酶基因第4外显子的错义突变导致严重联合免疫缺陷。

Hum Mol Genet. 1993 Aug;2(8):1307-8. doi: 10.1093/hmg/2.8.1307.

Two new mutations at the adenosine deaminase (ADA) locus (Q254X and del nt1050-54) unusual for not being missense mutations.

Hum Mutat. 1993;2(4):320-3. doi: 10.1002/humu.1380020415.

Seven novel mutations in the adenosine deaminase (ADA) gene in patients with severe and delayed onset combined immunodeficiency: G74C, V129M, G140E, R149W, Q199P, 462delG, and E337del. Mutations in brief no. 142. Online.严重迟发性联合免疫缺陷患者腺苷脱氨酶（ADA）基因的七个新突变：G74C、V129M、G140E、R149W、Q199P、462delG和E337del。简讯编号142。在线发表。

Hum Mutat. 1998;11(6):482. doi: 10.1002/(SICI)1098-1004(1998)11:6<482::AID-HUMU15>3.0.CO;2-E.

A point mutation in the 5' splice region of intron 7 causes a deletion of exon 7 in adenosine deaminase mRNA.内含子7的5'剪接区域中的一个点突变导致腺苷脱氨酶mRNA中外显子7缺失。

J Cell Biochem. 1993 Mar;51(3):322-5. doi: 10.1002/jcb.240510311.

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J Clin Immunol. 2015 Oct;35(7):624-37. doi: 10.1007/s10875-015-0191-z. Epub 2015 Sep 16.

J Clin Invest. 1993 Nov;92(5):2291-302. doi: 10.1172/JCI116833.

Somatic mosaicism for a newly identified splice-site mutation in a patient with adenosine deaminase-deficient immunodeficiency and spontaneous clinical recovery.一名腺苷脱氨酶缺乏性免疫缺陷且有自发临床康复的患者中，新发现的剪接位点突变的体细胞镶嵌现象。

Am J Hum Genet. 1994 Jul;55(1):59-68.

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