Novel and recurrent exon 13 mutations of COMP in pseudoachondroplasia.
Nakashima
Eiji
E
Mabuchi
Akihiko
A
Kubota
Mitsuru
M
Ishikiriyama
Satoshi
S
Ohashi
Hirofumi
H
Nishimura
Gen
G
Ikegawa
Shiro
S
D000130:Achondroplasia / Q000235:genetics* / Q000473:pathology; D000595:Amino Acid Sequence; D001483:Base Sequence; D064236:Cartilage Oligomeric Matrix Protein; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics*; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D006023:Glycoproteins / Q000235:genetics*; D006801:Humans; D008297:Male; D064235:Matrilin Proteins; D008875:Middle Aged; D009154:Mutation; D020125:Mutation, Missense; D010009:Osteochondrodysplasias / Q000235:genetics* / Q000473:pathology; D017384:Sequence Deletion; D012689:Sequence Homology, Nucleic Acid
D064236:Cartilage Oligomeric Matrix Protein; D016326:Extracellular Matrix Proteins; D006023:Glycoproteins; D064235:Matrilin Proteins; C577553:TSP5 protein, human