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Article

Refinement of the autosomal recessive polycystic kidney disease (PKHD1) interval and exclusion of an EF hand-containing gene as a PKHD1 candidate gene.

American journal of medical genetics - 15 Jul 2002

Onuchic Luiz F, Mrug Michal, Hou Xiaoying, Eggermann Thomas, Bergmann Carsten, Zerres Klaus, Avner Ellis D, Furu Laszlo, Somlo Stefan, Nagasawa Yasuyuki, Germino Gregory G, Guay-Woodford Lisa M

Abstract excerpt

Autosomal recessive polycystic kidney disease (ARPKD) is an often devastating form of polycystic kidney disease that presents primarily in infancy. The locus, PKHD1 (polycystic kidney and hepatic disease 1), on chromosome 6p21.1-p12, has been linked to all classical forms of this disorder. In previous studies, we cloned the PKHD1 interval in a set of overlapping YACs, converted this YAC-based framework into a...

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Identifiers

PMID: 12116208
DOI: 10.1002/ajmg.10468

Genes

PKHD1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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