Amino acid substitutions of conserved residues in the carboxyl-terminal domain of the alpha 1(X) chain of type X collagen occur in two unrelated families with metaphyseal chondrodysplasia type Schmid.

Wallis, G A

Amino acid substitutions of conserved residues in the carboxyl-terminal domain of the alpha 1(X) chain of type X collagen occur in two unrelated families with metaphyseal chondrodysplasia type Schmid. [electronic resource] - American journal of human genetics Feb 1994 - 169-78 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

0002-9297


Alleles
Amino Acid Sequence
Amino Acids--genetics
Base Sequence
Child, Preschool
Collagen--genetics
Conserved Sequence
DNA
Female
Humans
Infant
Male
Molecular Sequence Data
Mutation
Osteochondrodysplasias--genetics
Pedigree
Phenotype