Is there a genotype-phenotype correlation in primary hyperoxaluria type 1?

被引：15

作者：

Beck, B. B. ^{[1
]}

Hoppe, B. ^{[1
]}

机构：

[1] Univ Childrens Hosp, Div Pediat Nephrol, D-50937 Cologne, Germany

来源：

KIDNEY INTERNATIONAL | 2006年 / 70卷 / 06期

关键词：

D O I：

10.1038/sj.ki.5001797

中图分类号：

R5 [内科学]; R69 [泌尿科学（泌尿生殖系疾病）];

学科分类号：

1002 ; 100201 ;

摘要：

There is ongoing debate about a genotype-phenotype correlation in patients with primary hyperoxaluria type 1 and specific AGXT mutations. However, other determinants like environmental factors or modifer genes may play a pivotal role in the heterogeneity of the disease. The report of Lorenzo and co-workers highlights this situation, presenting data of a whole population with just one specific AGXT mutation.

引用

页码：984 / 986

页数：4

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