A splice mutation in a Syrian autosomal recessive hypercholesterolemia family causes a two-nucleotide deletion of mRNA

被引：6

作者：

Al-Kateb, H ^{[1
]}

Bautz, EKF

Luft, FC

Bähring, S

机构：

[1] Univ Heidelberg, Inst Mol Genet, Heidelberg, Germany

[2] Charite, Fac Med, HELIOS Klinikum Berlin, Franz Volhard Clin, Berlin, Germany

[3] Max Delbruck Ctr Mol Med, Berlin, Germany

来源：

CIRCULATION RESEARCH | 2003年 / 93卷 / 05期

关键词：

D O I：

10.1161/01.RES.0000089508.53350.70

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：E49 / E50

页数：2

共 5 条

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[3] Molecular mechanisms of autosomal recessive hypercholesterolemia [J].

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[4] Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein [J].

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[5]

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