Article
Phenotypic expressions of a Gly 154Arg mutation in type II collagen in two unrelated patients with spondyloepimetaphyseal dysplasia (SEMD).
American journal of medical genetics - 3 May 1996
Kaitila I, Körkkö J, Marttinen E, Ala-Kokko L
Abstract excerpt
Type II collagenopathies consist of chondrodysplasias ranging from lethal to mild in severity. A large number of mutations has been found in the COL2A1 gene. Glycine substitutions have been the most common types of mutation. Genotype-phenotype correlations in type II collagenopathies have not bee...
Topics
- Adult
- Aging
- Amino Acid Sequence
- Arginine
- Base Sequence
- Bone Development
- Bone and Bones
- Collagen
- Female
- Genotype
- Glycine
- Humans
- Infant, Newborn
- Male
- Molecular Sequence Data
- Osteochondrodysplasias
- Pedigree
- Phenotype