An Italian family with autosomal dominant polycystic kidney disease unlinked to either the PKD1 or PKD2 gene

被引：46

作者：

Turco, AE ^{[1
]}

Clementi, M ^{[1
]}

Rossetti, S ^{[1
]}

Tenconi, R ^{[1
]}

Pignatti, PF ^{[1
]}

机构：

[1] UNIV PADUA, SCH MED, DEPT PEDIAT, MED GENET SERV, PADUA, ITALY

来源：

AMERICAN JOURNAL OF KIDNEY DISEASES | 1996年 / 28卷 / 05期

关键词：

autosomal dominant polycystic kidney disease; genetic heterogeneity; PKD3; gene;

D O I：

10.1016/S0272-6386(96)90261-9

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：

We describe a family with autosomal dominant polycystic kidney disease in which molecular typing with closely linked markers for the PKD1 and PKD2 genes indicated absence of linkage. Thus, a third stilt unknown locus appears likely to be involved in disease development. This is the fourth ''PKD3-linked'' family described to date and the first from Italy. (C) 1996 by the National Kidney Foundation, Inc.

引用

页码：759 / 761

页数：3

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