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

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作者信息

Hirschhorn R, Chen A S, Israni A, Yang D R, Huie M L

机构信息

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

出版信息

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

DOI:10.1002/humu.1380020415

PMID:8401541

Abstract

摘要

相似文献

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.

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.

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。

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

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[Analysis on the mutation of ADAR gene in a pedigree with dyschromatosis symmetrical hereditaria].

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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 tetranucleotide repeat polymorphism in the human adenosine deaminase gene: interethnic comparison of three major human groups.人类腺苷脱氨酶基因中的新型四核苷酸重复多态性：三大主要人类群体的种族间比较。

Hum Biol. 1996 Apr;68(2):315-20.

Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency.腺苷脱氨酶缺乏症患者体内遗传性突变自发恢复正常。

Nat Genet. 1996 Jul;13(3):290-5. doi: 10.1038/ng0796-290.

Adenosine deaminase-related genes: molecular identification, tissue expression pattern and truncated alternative splice isoform in adult zebrafish (Danio rerio).腺苷脱氨酶相关基因：成年斑马鱼（斑马丹鱼）中的分子鉴定、组织表达模式及截短的可变剪接异构体

Life Sci. 2007 Nov 10;81(21-22):1526-34. doi: 10.1016/j.lfs.2007.09.019. Epub 2007 Oct 4.

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