TUPLE1/HIRA的基因组结构：一个与迪乔治综合征相关的基因。 - Suppr

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超能文献

Genomic organization of TUPLE1/HIRA: a gene implicated in DiGeorge syndrome.

作者信息

Llevadot R, Scambler P, Estivill X, Pritchard M

机构信息

Molecular Genetics Department 08907 Hospitalet de Llobregat, Barcelona, Spain.

出版信息

Mamm Genome. 1996 Dec;7(12):911-4. doi: 10.1007/s003359900268.

DOI:10.1007/s003359900268

PMID:8995764

Abstract

摘要

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Genomic organization of TUPLE1/HIRA: a gene implicated in DiGeorge syndrome.TUPLE1/HIRA的基因组结构：一个与迪乔治综合征相关的基因。

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本文引用的文献

Structural Organization of the WD repeat protein-encoding gene HIRA in the DiGeorge syndrome critical region of human chromosome 22.

Genome Res. 1996 Jan;6(1):43-50. doi: 10.1101/gr.6.1.43.

Interstitial 22q11 microdeletion excluding the ADU breakpoint in a patient with DiGeorge syndrome.一名患有DiGeorge综合征的患者存在间质22q11微缺失，不包括ADU断点。

Hum Mol Genet. 1995 Dec;4(12):2417-9. doi: 10.1093/hmg/4.12.2417.

Isolation of a putative transcriptional regulator from the region of 22q11 deleted in DiGeorge syndrome, Shprintzen syndrome and familial congenital heart disease.从22q11区域分离出一种假定的转录调节因子，该区域在迪乔治综合征、施普林曾综合征和家族性先天性心脏病中发生缺失。

Hum Mol Genet. 1993 Dec;2(12):2099-107. doi: 10.1093/hmg/2.12.2099.

Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene.

Nat Genet. 1995 Jul;10(3):269-78. doi: 10.1038/ng0795-269.

Isolation of a gene encoding an integral membrane protein from the vicinity of a balanced translocation breakpoint associated with DiGeorge syndrome.从与迪乔治综合征相关的平衡易位断点附近分离出一个编码整合膜蛋白的基因。

Hum Mol Genet. 1995 Jun;4(6):1027-33. doi: 10.1093/hmg/4.6.1027.

A human homolog of the S. cerevisiae HIR1 and HIR2 transcriptional repressors cloned from the DiGeorge syndrome critical region.

Hum Mol Genet. 1995 May;4(5):791-9. doi: 10.1093/hmg/4.5.791.

Cloning of a balanced translocation breakpoint in the DiGeorge syndrome critical region and isolation of a novel potential adhesion receptor gene in its vicinity.

Hum Mol Genet. 1995 Apr;4(4):551-8. doi: 10.1093/hmg/4.4.551.

Alternative splicing of calretinin mRNA leads to different forms of calretinin.

Eur J Biochem. 1995 Jun 1;230(2):424-30. doi: 10.1111/j.1432-1033.1995.0424h.x.

DiGeorge syndrome and related syndromes associated with 22q11.2 deletions. A review.与22q11.2缺失相关的迪格奥尔格综合征及相关综合征。综述。

Ann Genet. 1995;38(2):59-76.

A catalogue of splice junction sequences.剪接连接序列目录。

Nucleic Acids Res. 1982 Jan 22;10(2):459-72. doi: 10.1093/nar/10.2.459.

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