title: Novel and recurrent exon 13 mutations of COMP in pseudoachondroplasia.
authors.forename: Eiji
authors.initials: E
authors.lastname: Nakashima
authors.forename: Akihiko
authors.initials: A
authors.lastname: Mabuchi
authors.forename: Mitsuru
authors.initials: M
authors.lastname: Kubota
authors.forename: Satoshi
authors.initials: S
authors.lastname: Ishikiriyama
authors.forename: Hirofumi
authors.initials: H
authors.lastname: Ohashi
authors.forename: Gen
authors.initials: G
authors.lastname: Nishimura
authors.forename: Shiro
authors.initials: S
authors.lastname: Ikegawa
mesh_terms: 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
chemical_list: D064236:Cartilage Oligomeric Matrix Protein; D016326:Extracellular Matrix Proteins; D006023:Glycoproteins; D064235:Matrilin Proteins; C577553:TSP5 protein, human