Mutations within the gene encoding the alpha 1 (X) chain of type X collagen (COL10A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia.
Wallis, G A
Mutations within the gene encoding the alpha 1 (X) chain of type X collagen (COL10A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia. [electronic resource] - Journal of medical genetics Jun 1996 - 450-7 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
0022-2593
10.1136/jmg.33.6.450 doi
Adolescent
Child
Child, Preschool
Collagen--genetics
Exons
Female
Humans
Infant
Introns
Male
Mutation
Osteochondrodysplasias--genetics
Pedigree
Polymorphism, Genetic
Polymorphism, Single-Stranded Conformational
Promoter Regions, Genetic
Mutations within the gene encoding the alpha 1 (X) chain of type X collagen (COL10A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia. [electronic resource] - Journal of medical genetics Jun 1996 - 450-7 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
0022-2593
10.1136/jmg.33.6.450 doi
Adolescent
Child
Child, Preschool
Collagen--genetics
Exons
Female
Humans
Infant
Introns
Male
Mutation
Osteochondrodysplasias--genetics
Pedigree
Polymorphism, Genetic
Polymorphism, Single-Stranded Conformational
Promoter Regions, Genetic