Funder
Ministry of Science, ICT and Future Planning
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Reference13 articles.
1. Gedeon AK, Tiller GE, Le Merrer M, Heuertz S, Tranebjaerg L, Chitayat D, Robertson S, Glass IA, Savarirayan R, Cole WG, et al. The molecular basis of X-linked spondyloepiphyseal dysplasia tarda. Am J Hum Genet. 2001;68(6):1386–97.
2. Brunet S, Sacher M. In sickness and in health: the role of TRAPP and associated proteins in disease. Traffic (Copenhagen, Denmark). 2014;15(8):803–18.
3. Savarirayan R, Thompson E, Gecz J. Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400). Eur J Hum Genet. 2003;11(9):639–42.
4. 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;86(7):3233–6.
5. Shaw MA, Brunetti-Pierri N, Kadasi L, Kovacova V, Van Maldergem L, De Brasi D, Salerno M, Gecz J. Identification of three novel SEDL mutations, including mutation in the rare, non-canonical splice site of exon 4. Clin Genet. 2003;64(3):235–42.
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