Identification of five novel mutations in cartilage oligomeric matrix protein gene in pseudoachondroplasia and multiple epiphyseal dysplasia

1998 ◽  
Vol 11 (S1) ◽  
pp. S10-S17 ◽  
Author(s):  
John Loughlin ◽  
Catherine Irven ◽  
Zehra Mustafa ◽  
Michael D. Briggs ◽  
Andrew Carr ◽  
...  
Keyword(s):  
Cartilage Oligomeric Matrix Protein ◽  
Matrix Protein ◽  
Protein Gene ◽  
Multiple Epiphyseal Dysplasia ◽  
Novel Mutations ◽  
Matrix Protein Gene ◽  
Epiphyseal Dysplasia

Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene

1995 ◽  
Vol 10 (3) ◽  
pp. 330-336 ◽  
Author(s):  
M.D. Briggs ◽  
S.M.G. Hoffman ◽  
L.M. King ◽  
A.S. Olsen ◽  
H. Mohrenweiser ◽  
...  
Keyword(s):  
Cartilage Oligomeric Matrix Protein ◽  
Matrix Protein ◽  
Protein Gene ◽  
Multiple Epiphyseal Dysplasia ◽  
Matrix Protein Gene ◽  
Epiphyseal Dysplasia

Novel mutation in exon 18 of the cartilage oligomeric matrix protein gene causes a severe pseudoachondroplasia

2001 ◽  
Vol 104 (2) ◽  
pp. 135-139 ◽  
Author(s):  
Akihiko Mabuchi ◽  
Nobuhiko Haga ◽  
Toshiyuki Ikeda ◽  
Noriyo Manabe ◽  
Hirofumi Ohashi ◽  
...  
Keyword(s):  
Cartilage Oligomeric Matrix Protein ◽  
Matrix Protein ◽  
Protein Gene ◽  
Novel Mutation ◽  
Matrix Protein Gene

scholarly journals Identification of a 3Kbp Mechanoresponsive Promoter Region in the Human Cartilage Oligomeric Matrix Protein Gene

2012 ◽  
Vol 18 (17-18) ◽  
pp. 1882-1889 ◽  
Author(s):  
Derek F. Amanatullah ◽  
Jeffrey Lu ◽  
Jacqueline Hecht ◽  
Karen Posey ◽  
Jasper Yik ◽  
...  
Keyword(s):  
Promoter Region ◽  
Cartilage Oligomeric Matrix Protein ◽  
Matrix Protein ◽  
Protein Gene ◽  
Human Cartilage ◽  
Matrix Protein Gene

Novel and recurrent COMP (cartilage oligomeric matrix protein) mutations in pseudoachondroplasia and multiple epiphyseal dysplasia

1998 ◽  
Vol 103 (6) ◽  
pp. 633-638 ◽  
Author(s):  
S. Ikegawa ◽  
Hirofumi Ohashi ◽  
Gen Nishimura ◽  
Kyoung Chang Kim ◽  
Akio Sannohe ◽  
...  
Keyword(s):  
Cartilage Oligomeric Matrix Protein ◽  
Matrix Protein ◽  
Multiple Epiphyseal Dysplasia ◽  
Protein Mutations ◽  
Epiphyseal Dysplasia
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