A new variant of apolipoprotein E (apo E Maebashi) in lipoprotein glomerulopathy

被引：0

作者：

T. Ogawa

K. Maruyama

H. Hattori

H. Arai

I. Kondoh

T. Egashira

T. Watanabe

Y. Kobayashi

A. Morikawa

机构：

[1] Department of Pediatrics,

[2] Gunma University School of Medicine,undefined

[3] 3-39-22 Showa-machi,undefined

[4] Maebashi,undefined

[5] Gunma,undefined

[6] 371-8511 Japan Tel.: +81-27-220-8205,undefined

[7] Fax: +81-27-220-8215,undefined

[8] Research Department,undefined

[9] R and D Center,undefined

[10] BML,undefined

[11] Inc.,undefined

[12] Kawagoe,undefined

[13] Saitama,undefined

[14] Japan,undefined

来源：

Pediatric Nephrology | 2000年 / 14卷

关键词：

Key words Lipoprotein glomerulopathy; Deletion mutation; Apolipoprotein E; Novel variant protein; DNA sequence analysis;

D O I：

暂无

中图分类号：

学科分类号：

摘要：

We have previously reported an 8-year-old girl with lipoprotein glomerulopathy. Assessment of serum apolipoprotein E (apo E) in this patient showed a discrepancy between phenotype and genotype, suggesting that she may have a variant of apo E. The present report concerns our analysis of DNA sequences of the apo E gene in the patient: nine base pairs were found to be deleted from exon 4. This mutation would appear to encode a new apo E variant lacking three amino acids. This variant may be associated with the pathogenesis of lipoprotein glomerulopathy.

引用

页码：149 / 151

页数：2

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