Identification of a mutation in type X collagen in a family with Schmid metaphyseal chondrodysplasia.
Dharmavaram
R M
RM
Department of Medicine, Thomas Jefferson University, Philadelphia, PA 19107.
Elberson
M A
MA
Peng
M
M
Kirson
L A
LA
Kelley
T E
TE
Jimenez
S A
SA
D000595:Amino Acid Sequence; D001483:Base Sequence; D003094:Collagen / Q000235:genetics*; D004247:DNA; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010009:Osteochondrodysplasias / Q000235:genetics*; D010375:Pedigree
D003094:Collagen; D004247:DNA