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Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease.
Nat Genet. 2001 Apr;27(4):369-70. doi: 10.1038/86860.
Nat Genet. 2001.
PMID: 11279515
SIP1, a novel zinc finger/homeodomain repressor, interacts with Smad proteins and binds to 5'-CACCT sequences in candidate target genes.
Verschueren K, Remacle JE, Collart C, Kraft H, Baker BS, Tylzanowski P, Nelles L, Wuytens G, Su MT, Bodmer R, Smith JC, Huylebroeck D.
Verschueren K, et al.
J Biol Chem. 1999 Jul 16;274(29):20489-98. doi: 10.1074/jbc.274.29.20489.
J Biol Chem. 1999.
PMID: 10400677
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