Autosomal dominant polycystic kidney disease: evidence for the existence of a third locus in a Portuguese family

Salomé de Almeida; Edgar de Almeida; Dorien Peters; José Reimão Pinto; Isabel Távora; João Lavinha; Martjn Breuning; Mateus Martins Prata

doi:10.1007/BF00214191

Autosomal dominant polycystic kidney disease: evidence for the existence of a third locus in a Portuguese family

Salomé de Almeida^*, Edgar de Almeida, Dorien Peters, José Reimão Pinto, Isabel Távora, João Lavinha, Martjn Breuning, Mateus Martins Prata

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

44 Citations (Scopus)

Abstract

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.

Original language	English
Pages (from-to)	83-88
Number of pages	6
Journal	Human Genetics
Volume	96
Issue number	1
DOIs	https://doi.org/10.1007/BF00214191
Publication status	Published - 2004
Externally published	Yes

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abstract = "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.",

author = "{de Almeida}, Salom{\'e} and {de Almeida}, Edgar and Dorien Peters and Pinto, {Jos{\'e} Reim{\~a}o} and Isabel T{\'a}vora and Jo{\~a}o Lavinha and Martjn Breuning and Prata, {Mateus Martins}",

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T2 - evidence for the existence of a third locus in a Portuguese family

AU - de Almeida, Salomé

AU - de Almeida, Edgar

AU - Peters, Dorien

AU - Pinto, José Reimão

AU - Távora, Isabel

AU - Lavinha, João

AU - Breuning, Martjn

AU - Prata, Mateus Martins

PY - 2004

Y1 - 2004

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AB - 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.

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U2 - 10.1007/BF00214191

DO - 10.1007/BF00214191

M3 - Article

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AN - SCOPUS:0029042394

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JO - Human Genetics

JF - Human Genetics

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ER -

Autosomal dominant polycystic kidney disease: evidence for the existence of a third locus in a Portuguese family

Abstract

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