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References

These sources were used to develop the Genetics Home Reference gene summary on the TRAPPC2 gene.

Christie PT, Curley A, Nesbit MA, Chapman C, Genet S, Harper PS, Keeling SL, Wilkie AO, Winter RM, Thakker RV. Mutational analysis in X-linked spondyloepiphyseal dysplasia tarda. J Clin Endocrinol Metab. 2001 Jul;86(7):3233-6. PubMed citation
Entrez Gene
Gécz J, Hillman MA, Gedeon AK, Cox TC, Baker E, Mulley JC. Gene structure and expression study of the SEDL gene for spondyloepiphyseal dysplasia tarda. Genomics. 2000 Oct 15;69(2):242-51. PubMed citation
Gedeon AK, Tiller GE, Le Merrer M, Heuertz S, Tranebjaerg L, Chitayat D, Robertson S, Glass IA, Savarirayan R, Cole WG, Rimoin DL, Kousseff BG, Ohashi H, Zabel B, Munnich A, Gecz J, Mulley JC. The molecular basis of X-linked spondyloepiphyseal dysplasia tarda. Am J Hum Genet. 2001 Jun;68(6):1386-97. Epub 2001 May 8. PubMed citation
Jang SB, Kim YG, Cho YS, Suh PG, Kim KH, Oh BH. Crystal structure of SEDL and its implications for a genetic disease spondyloepiphyseal dysplasia tarda. J Biol Chem. 2002 Dec 20;277(51):49863-9. Epub 2002 Oct 1. PubMed citation
Mumm S, Zhang X, Vacca M, D'Esposito M, Whyte MP. The sedlin gene for spondyloepiphyseal dysplasia tarda escapes X-inactivation and contains a non-canonical splice site. Gene. 2001 Aug 8;273(2):285-93. PubMed citation
OMIM: TRACKING PROTEIN PARTICLE COMPLEX, SUBUNIT 2

Reviewed: June 2008

Published: June 17, 2013