CD40lbase：一个导致X连锁高IgM综合征的CD40L基因突变数据库。
CD40lbase: a database of CD40L gene mutations causing X-linked hyper-IgM syndrome.
作者信息
Notarangelo L D, Peitsch M C, Abrahamsen T G, Bachelot C, Bordigoni P, Cant A J, Chapel H, Clementi M, Deacock S, de Saint Basile G, Duse M, Espanol T, Etzioni A, Fasth A, Fischer A, Giliani S, Gomez L, Hammarstorm L, Jones A, Kanariou M, Kinnon C, Klemola T, Kroczek R A, Levy J, Matamoros N, Monafo V, Paolucci P, Reznick I, Sanal O, Smith C I, Thompson R A, Tovo P, Villa A, Vihinen M, Vossen J, Zegers B J
出版信息
Immunol Today. 1996 Nov;17(11):511-6. doi: 10.1016/0167-5699(96)30059-5.
X-linked hyper-IgM syndrome (X-HIM) is an immunodeficiency caused by mutations in the gene encoding the CD40 ligand (CD40L). A database (CD40Lbase) of CD40L mutations has now been established, and the resultant information, together with other mutations reported elsewhere in the literature, is presented here.
X连锁高IgM综合征（X-HIM）是一种由编码CD40配体（CD40L）的基因突变引起的免疫缺陷病。目前已建立了一个CD40L突变数据库（CD40Lbase），本文展示了由此获得的信息以及文献中其他地方报道的其他突变。
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