Missense mutations in the beta strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia.
Jackson
G C
GC
Barker
F S
FS
Jakkula
E
E
Czarny-Ratajczak
M
M
Mäkitie
O
O
Cole
W G
WG
Wright
M J
MJ
Smithson
S F
SF
Suri
M
M
Rogala
P
P
Mortier
G R
GR
Baldock
C
C
Wallace
A
A
Elles
R
R
Ala-Kokko
L
L
Briggs
M D
MD
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
D064236:Cartilage Oligomeric Matrix Protein; D016326:Extracellular Matrix Proteins; D006023:Glycoproteins; D064235:Matrilin Proteins; D010455:Peptides; C577553:TSP5 protein, human