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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. doi: 10.1016/s0378-1119(01)00571-6.
Gene. 2001.
PMID: 11595175
Preonset studies of spondyloepiphyseal dysplasia tarda caused by a novel 2-base pair deletion in SEDL encoding sedlin.
Mumm S, Zhang X, Gottesman GS, McAlister WH, Whyte MP.
Mumm S, et al.
J Bone Miner Res. 2001 Dec;16(12):2245-50. doi: 10.1359/jbmr.2001.16.12.2245.
J Bone Miner Res. 2001.
PMID: 11760838
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