TY  - GEN
AU  - Wallis,G A
AU  - Rash,B
AU  - Sykes,B
AU  - Bonaventure,J
AU  - Maroteaux,P
AU  - Zabel,B
AU  - Wynne-Davies,R
AU  - Grant,M E
AU  - Boot-Handford,R P
TI  - 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
SN  - 0022-2593
PY  - 1996///1203
KW  - Adolescent
KW  - Child
KW  - Child, Preschool
KW  - Collagen
KW  - genetics
KW  - Exons
KW  - Female
KW  - Humans
KW  - Infant
KW  - Introns
KW  - Male
KW  - Mutation
KW  - Osteochondrodysplasias
KW  - Pedigree
KW  - Polymorphism, Genetic
KW  - Polymorphism, Single-Stranded Conformational
KW  - Promoter Regions, Genetic
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1136/jmg.33.6.450
ER  -