在中国一名β地中海贫血患者扩增的基因组DNA中鉴定出一种新型-32（C-A）突变体。 - Suppr

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超能文献

A novel -32 (C-A) mutant identified in amplified genomic DNA of a Chinese beta-thalassemic patient.

作者信息

Lin L I, Lin K S, Lin K H, Cheng T Y

出版信息

Am J Hum Genet. 1992 Jan;50(1):237-8.

PMID:1729892

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1682536/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/27c9/1682536/92c7f5f77182/ajhg00072-0241-a.jpg

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引用本文的文献

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beta-Thalassemia in a Kurdish Jew. Single base changes in the T-A-T-A box.一名库尔德犹太人的β地中海贫血。TATA框中的单碱基变化。

J Biol Chem. 1982 Jun 10;257(11):5994-6.

beta-Thalassemia in American Blacks: novel mutations in the "TATA" box and an acceptor splice site.美国黑人中的β地中海贫血：“TATA”框和一个剪接受体位点的新突变

Proc Natl Acad Sci U S A. 1984 Feb;81(4):1154-8. doi: 10.1073/pnas.81.4.1154.

ATA box transcription mutation in beta-thalassemia.

Nucleic Acids Res. 1983 Jul 25;11(14):4727-34. doi: 10.1093/nar/11.14.4727.

Three regions upstream from the cap site are required for efficient and accurate transcription of the rabbit beta-globin gene in mouse 3T6 cells.兔β-珠蛋白基因在小鼠3T6细胞中高效且准确转录需要帽位点上游的三个区域。

Cell. 1983 Mar;32(3):695-706. doi: 10.1016/0092-8674(83)90055-7.

Beta-thalassemia due to a T----A mutation within the ATA box.由ATA框内T----A突变导致的β地中海贫血。

Biochem Biophys Res Commun. 1988 Jun 16;153(2):741-7. doi: 10.1016/s0006-291x(88)81157-4.

The same "TATA" box beta-thalassemia mutation in Chinese and US blacks: another example of independent origins of mutation.中国人群和美国黑人中相同的“TATA”盒β地中海贫血突变：突变独立起源的又一实例

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