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The Tabby phenotype is caused by mutation in a mouse homologue of the EDA gene that reveals novel mouse and human exons and encodes a protein (ectodysplasin-A) with collagenous domains.
Srivastava AK, Pispa J, Hartung AJ, Du Y, Ezer S, Jenks T, Shimada T, Pekkanen M, Mikkola ML, Ko MS, Thesleff I, Kere J, Schlessinger D. Srivastava AK, et al. Among authors: pispa j. Proc Natl Acad Sci U S A. 1997 Nov 25;94(24):13069-74. doi: 10.1073/pnas.94.24.13069. Proc Natl Acad Sci U S A. 1997. PMID: 9371801 Free PMC article.
Transgenic mouse models support HCR as an effector gene in the PSORS1 locus.
Elomaa O, Majuri I, Suomela S, Asumalahti K, Jiao H, Mirzaei Z, Rozell B, Dahlman-Wright K, Pispa J, Kere J, Saarialho-Kere U. Elomaa O, et al. Among authors: pispa j. Hum Mol Genet. 2004 Aug 1;13(15):1551-61. doi: 10.1093/hmg/ddh178. Epub 2004 Jun 9. Hum Mol Genet. 2004. PMID: 15190014
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