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PKD1

MIM.601313 16p13.3-p13.12

IMG/jpg/cilia_centrosomes_renal_cystic_diseases-3.jpg IMG/jpg/cilia_cystoproteins_01-2.jpg

Pathology

- autosomal dominant polycystic kidney disease (ADPKD) may arise from mutations in genes PKD1 (MIM.601313) and PKD2 (MIM.173910)

See also

- polycystins

References

- Chauvet V, Qian F, Boute N, Cai Y, Phakdeekitacharoen B, Onuchic LF, Attie-Bitach T, Guicharnaud L, Devuyst O, Germino GG, Gubler MC. Expression of PKD1 and PKD2 transcripts and proteins in human embryo and during normal kidney development. Am J Pathol. 2002 Mar;160(3):973-83. PMID: 11891195

Keywords