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Novel and recurrent mutations in the C-terminal domain ofCO..:
Kennedy, Jason
;
Jackson, Gail C.
;
Barker, Faye S.
...
Human Mutation. 25 (2005) 6 - p. 593-594 , 2005
Link:
https://doi.org/10.1002/humu.9342
RT Journal T1
Novel and recurrent mutations in the C-terminal domain ofCOMP cluster in two distinct regions and result in a spectrum of phenotypes within the pseudoachondroplasia - multiple epiphyseal dysplasia disease group
UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_humu.9342&Exemplar=1&LAN=DE A1 Kennedy, Jason A1 Jackson, Gail C. A1 Barker, Faye S. A1 Nundlall, Seema A1 Bella, Jordi A1 Wright, Michael J. A1 Mortier, Geert R. A1 Neas, Katherine A1 Thompson, Elizabeth A1 Elles, Rob A1 Briggs, Michael D. PB Hindawi Limited YR 2005 SN 1059-7794 SN 1098-1004 JF Human Mutation VO 25 IS 6 SP 593 OP 594 LK http://dx.doi.org/https://doi.org/10.1002/humu.9342 DO https://doi.org/10.1002/humu.9342 SF ELIB - SuUB Bremen
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