- Characterization of the human neurocan gene, CSPG3C K Prange
Human Genome Center, Biology and Biotechnology Research Program, L 452, Lawrence Livermore National Laboratory, Livermore, CA 94550, USA
Gene 221:199-205. 1998..Finally, genomic sequencing of a cosmid containing the complete neurocan gene was performed to determine the genomic structure of the gene, which spans approx. 41kb, and is transcribed in the telomere to centromere orientation...
- Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasiaJ T Hecht
Department of Pediatrics, University of Texas Medical School at Houston 77225, USA
Nat Genet 10:325-9. 1995..Six mutations delete or change a well conserved aspartic acid residue within the calcium-binding type 3 repeats. These results demonstrate that mutations in the COMP gene cause pseudochondroplasia...