title: Missense mutations in the beta strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia.
authors.forename: G C
authors.initials: GC
authors.lastname: Jackson
authors.forename: F S
authors.initials: FS
authors.lastname: Barker
authors.forename: E
authors.initials: E
authors.lastname: Jakkula
authors.forename: M
authors.initials: M
authors.lastname: Czarny-Ratajczak
authors.forename: O
authors.initials: O
authors.lastname: Mäkitie
authors.forename: W G
authors.initials: WG
authors.lastname: Cole
authors.forename: M J
authors.initials: MJ
authors.lastname: Wright
authors.forename: S F
authors.initials: SF
authors.lastname: Smithson
authors.forename: M
authors.initials: M
authors.lastname: Suri
authors.forename: P
authors.initials: P
authors.lastname: Rogala
authors.forename: G R
authors.initials: GR
authors.lastname: Mortier
authors.forename: C
authors.initials: C
authors.lastname: Baldock
authors.forename: A
authors.initials: A
authors.lastname: Wallace
authors.forename: R
authors.initials: R
authors.lastname: Elles
authors.forename: L
authors.initials: L
authors.lastname: Ala-Kokko
authors.forename: M D
authors.initials: MD
authors.lastname: Briggs
mesh_terms: D000293:Adolescent; D000595:Amino Acid Sequence / Q000235:genetics; D064236:Cartilage Oligomeric Matrix Protein; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis / Q000379:methods; D005091:Exons / Q000235:genetics; D016326:Extracellular Matrix Proteins / Q000737:chemistry / Q000235:genetics*; D005260:Female; D006023:Glycoproteins / Q000235:genetics; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008297:Male; D064235:Matrilin Proteins; D008958:Models, Molecular; D008969:Molecular Sequence Data; D020125:Mutation, Missense / Q000235:genetics*; D010009:Osteochondrodysplasias / Q000235:genetics*; D010375:Pedigree; D010455:Peptides / Q000737:chemistry / Q000235:genetics; D017434:Protein Structure, Tertiary / Q000235:genetics
chemical_list: D064236:Cartilage Oligomeric Matrix Protein; D016326:Extracellular Matrix Proteins; D006023:Glycoproteins; D064235:Matrilin Proteins; D010455:Peptides; C577553:TSP5 protein, human