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Archives of Biochemistry and Biophysics|July 24, 1998
Incorporation of structurally defective type II collagen into cartilage matrix in kniest chondrodysplasiaR J Fernandes, D J Wilkin, M A Weis, et al.Matrix Biology : Journal of the International Society for Matrix Biology|March 21, 1998
Characterization of the human extracellular matrix protein 1 gene on chromosome 1q21M R Johnson, D J Wilkin, H L Vos, et al.The Journal of Biological Chemistry|March 21, 1998
Structurally abnormal type II collagen in a severe form of Kniest dysplasia caused by an exon 24 skipping mutationM A Weis, D J Wilkin, H J Kim, et al.American Journal of Human Genetics|October 30, 1998
A second locus for familial high myopia maps to chromosome 12qT L Young, S M Ronan, A B Alvear, et al.American Journal of Medical Genetics|November 7, 1998
Correlation of linkage data with phenotype in eight families with Stickler syndromeD J Wilkin, G R Mortier, C L Johnson, et al.American Journal of Human Genetics|June 23, 1998
Evidence that a locus for familial high myopia maps to chromosome 18pT L Young, S M Ronan, L A Drahozal, et al.Journal of Medical Genetics|April 4, 2000
Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorderG R Mortier, M Weis, L Nuytinck, et al.Nature Genetics|March 1, 1995
Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3P L Tavormina, R Shiang, L M Thompson, et al.American Journal of Medical Genetics|July 16, 1999
Small deletions in the type II collagen triple helix produce kniest dysplasiaD J Wilkin, A S Artz, S South, et al.American Journal of Human Genetics|August 27, 1998
Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosomeD J Wilkin, J K Szabo, R Cameron, et al.Pageof 2