X连锁无丙种球蛋白血症中无xid突变。 - Suppr | 超能文献

Absence of xid mutation in X-linked agammaglobulinaemia.

作者信息

Vorechovsky I, Zhou J N, Hammarström L, Smith C I, Thomas J D, Paul W E, Notarangelo L D, Bernatowska-Matuszkiewicz E

出版信息

Lancet. 1993 Aug 28;342(8870):552. doi: 10.1016/0140-6736(93)91676-d.

DOI:10.1016/0140-6736(93)91676-d

Abstract

摘要

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Absence of xid mutation in X-linked agammaglobulinaemia.X连锁无丙种球蛋白血症中无xid突变。

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Mutation analysis of the Bruton's tyrosine kinase gene in X-linked agammaglobulinemia: identification of a mutation which affects the same codon as is altered in immunodeficient xid mice.X连锁无丙种球蛋白血症中布鲁顿酪氨酸激酶基因的突变分析：鉴定出一个与免疫缺陷xid小鼠中发生改变的密码子相同的突变。

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Improved oligonucleotide primer set for molecular diagnosis of X-linked agammaglobulinaemia: predominance of amino acid substitutions in the catalytic domain of Bruton's tyrosine kinase.用于X连锁无丙种球蛋白血症分子诊断的改进寡核苷酸引物组：布鲁顿酪氨酸激酶催化结构域中氨基酸取代占优势

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Mutation analysis in Bruton's tyrosine kinase, the X-linked agammaglobulinaemia gene, including identification of an insertional hotspot.布鲁顿酪氨酸激酶（X连锁无丙种球蛋白血症基因）的突变分析，包括一个插入热点的鉴定。

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引用本文的文献

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Characterization of a CD38-like 78-kilodalton soluble protein released from B cell lines derived from patients with X-linked agammaglobulinemia.对从患有X连锁无丙种球蛋白血症患者的B细胞系中释放的一种类似CD38的78千道尔顿可溶性蛋白的特性分析。

J Clin Invest. 1998 Jun 15;101(12):2821-30. doi: 10.1172/JCI1068.

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X-linked agammaglobulinemia: lack of mature B lineage cells caused by mutations in the Btk kinase.X连锁无丙种球蛋白血症：由Btk激酶突变导致成熟B淋巴细胞系细胞缺失。

Springer Semin Immunopathol. 1998;19(4):369-81. doi: 10.1007/BF00792597.

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BTKbase, mutation database for X-linked agammaglobulinemia (XLA).BTKbase，X连锁无丙种球蛋白血症（XLA）的突变数据库。

Nucleic Acids Res. 1996 Jan 1;24(1):160-5. doi: 10.1093/nar/24.1.160.