AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE - EVIDENCE FOR THE EXISTENCE OF A 3RD LOCUS IN A PORTUGUESE FAMILY

被引：112

作者：

DEALMEIDA, S

DEALMEIDA, E

PETERS, D

PINTO, JR

TAVORA, I

LAVINHA, J

BREUNING, M

PRATA, MM

机构：

[1] INST NACL SAUDE,DEPT HUMAN GENET,P-1699 LISBON,PORTUGAL

[2] HOSP SANTA MARIA,SERV NEFROL,LISBON,PORTUGAL

[3] LEIDEN UNIV,SYLVIUS LAB,DEPT HUMAN GENET,LEIDEN,NETHERLANDS

来源：

HUMAN GENETICS | 1995年 / 96卷 / 01期

关键词：

D O I：

10.1007/BF00214191

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Autosomal dominant polycystic kidney disease is characterized by clinical and genetic heterogeneity. Two loci implicated in the disease have previously been mapped (PKD1 on chromosome 16 and PKD2 on chromosome 4). By two point and multipoint linkage analysis, negative lod scores have been found for both chromosome 16 and chromosome 4 markers in a large Portuguese family, indicating that a third PKD locus is involved in the development of the disease.

引用

页码：83 / 88

页数：6

共 27 条

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