Localisation of pseudohypoaldosteronism genes to chromosome 16p12.2-13.11 and 12p13.1-pter by homozygosity mapping.

@article{Strautnieks1996LocalisationOP,
  title={Localisation of pseudohypoaldosteronism genes to chromosome 16p12.2-13.11 and 12p13.1-pter by homozygosity mapping.},
  author={Sandra S. Strautnieks and Richard J. Thompson and Aaron Hanukoglu and Michael J. Dillon and Israel Hanukoglu and Ursula Kuhnle and Jonathan R Seckl and R. Mark Gardiner and Eddie Chu Chung},
  journal={Human molecular genetics},
  year={1996},
  volume={5 2},
  pages={293-9}
}
Pseudohypoaldosteronism type 1 (PHA1, OMIM 264350) is a rare Mendelian disorder characterised by end-organ unresponsiveness to mineralocorticoids. Most steroid hormone insensitivity syndromes arise from mutations in the corresponding receptor, but available genetic evidence is against involvement of the mineralocorticoid receptor gene, MLR, in PHA1. A complete genome scan for PHA1 genes was undertaken using homozygosity mapping in 11 consanguineous families. Conclusive evidence of linkage with… CONTINUE READING
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Cloning, chromosomal localisaiton and physical linkage

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