A new point mutation involving a highly conserved leucine in the Btk SH2 domain in a family with X linked agammaglobulinaemia.

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作者信息

Ohashi Y, Tsuchiya S, Konno T

出版信息

J Med Genet. 1995 Jan;32(1):77-8. doi: 10.1136/jmg.32.1.77.

DOI:10.1136/jmg.32.1.77

PMID:7897635

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1050193/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0bba/1050193/f8d0f9cfb378/jmedgene00268-0079-a.jpg

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本文引用的文献

Epstein-Barr virus-induced lymphoblastoid cell lines from patients with primary immunodeficiency diseases.

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Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia.人类X连锁无丙种球蛋白血症中B细胞胞质酪氨酸激酶的表达缺陷

Cell. 1993 Jan 29;72(2):279-90. doi: 10.1016/0092-8674(93)90667-f.

The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases.与X连锁无丙种球蛋白血症相关的基因是蛋白质酪氨酸激酶src家族的成员。

Nature. 1993 Jan 21;361(6409):226-33. doi: 10.1038/361226a0.

Brief report: a point mutation in the SH2 domain of Bruton's tyrosine kinase in atypical X-linked agammaglobulinemia.简短报告：非典型X连锁无丙种球蛋白血症中布鲁顿酪氨酸激酶SH2结构域的一个点突变

N Engl J Med. 1994 May 26;330(21):1488-91. doi: 10.1056/NEJM199405263302104.

Mutation detection in the X-linked agammaglobulinemia gene, BTK, using single strand conformation polymorphism analysis.利用单链构象多态性分析检测X连锁无丙种球蛋白血症基因BTK中的突变。

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Hum Mol Genet. 1994 Jan;3(1):161-6. doi: 10.1093/hmg/3.1.161.

Epstein-Barr virus-induced precursor B cell lines from patients with congenital agammaglobulinemia.来自先天性无丙种球蛋白血症患者的爱泼斯坦-巴尔病毒诱导的前B细胞系。

Tohoku J Exp Med. 1983 Jun;140(2):133-44. doi: 10.1620/tjem.140.133.

Secondary structure of Src homology 2 domain of c-Abl by heteronuclear NMR spectroscopy in solution.溶液中c-Abl的Src同源2结构域的二级结构通过异核核磁共振光谱法测定。

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