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MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO).
Kennedy AM, Inada M, Krane SM, Christie PT, Harding B, López-Otín C, Sánchez LM, Pannett AA, Dearlove A, Hartley C, Byrne MH, Reed AA, Nesbit MA, Whyte MP, Thakker RV. Kennedy AM, et al. Among authors: thakker rv. J Clin Invest. 2005 Oct;115(10):2832-42. doi: 10.1172/JCI22900. J Clin Invest. 2005. PMID: 16167086 Free PMC article.
Mapping of the gene encoding the B56 beta subunit of protein phosphatase 2A (PPP2R5B) to a 0.5-Mb region of chromosome 11q13 and its exclusion as a candidate gene for multiple endocrine neoplasia type 1 (MEN1).
Forbes SA, Pannett AA, Bassett JH, Harding B, Wooding C, Thakker RV, Butler R, Ogilvie D, Anand R, Gaudray P, Weber G, Larsson C, Zhang CX, Calender A, Höppener JW, Lips CJ, Kas K. Forbes SA, et al. Among authors: thakker rv. Hum Genet. 1997 Sep;100(3-4):481-5. doi: 10.1007/s004390050538. Hum Genet. 1997. PMID: 9272177
377 results