Pages that link to "Q24294516"
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The following pages link to An amino acid substitution (Gly853-->Glu) in the collagen alpha 1(II) chain produces hypochondrogenesis (Q24294516):
Displaying 18 items.
- Collagen type II alpha 1 chain (Q5145888) (← links)
- Linkage of early-onset osteoarthritis and chondrocalcinosis to human chromosome 8q (Q24672909) (← links)
- Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder (Q24681239) (← links)
- Genetic aspects of familial osteoarthritis (Q33566848) (← links)
- A bit of give and take: the relationship between the extracellular matrix and the developing chondrocyte (Q35586731) (← links)
- An RNA-splicing mutation (G 5IVS20) in the type II collagen gene (COL2A1) in a family with spondyloepiphyseal dysplasia congenita (Q35643159) (← links)
- Expression, in cartilage, of a 7-amino-acid deletion in type II collagen from two unrelated individuals with Kniest dysplasia (Q35889820) (← links)
- Protein quality control: the who's who, the where's and therapeutic escapes (Q36432134) (← links)
- Genetic analysis of skeletal dysplasia: recent advances and perspectives in the post-genome-sequence era. (Q36467122) (← links)
- Disorders of the growth plate (Q37601200) (← links)
- Recurrent c.G1636A (p.G546S) mutation of COL2A1 in a Chinese family with skeletal dysplasia and different metaphyseal changes: a case report (Q38664259) (← links)
- Clinical--molecular correlations in the skeletal dysplasias (Q40496838) (← links)
- The type II collagenopathies: a spectrum of chondrodysplasias (Q40739827) (← links)
- A large family with features of pseudoachondroplasia and multiple epiphyseal dysplasia: exclusion of seven candidate gene loci that encode proteins of the cartilage extracellular matrix (Q41485424) (← links)
- Germline mutation within COL2A1 associated with lethal chondrodysplasia in a polled Holstein family (Q42373531) (← links)
- Substitution of aspartic acid for glycine at position 310 in type II collagen produces achondrogenesis II, and substitution of serine at position 805 produces hypochondrogenesis: analysis of genotype-phenotype relationships (Q42825662) (← links)
- Spondyloepiphyseal dysplasia and precocious osteoarthritis in a family with an Arg75-->Cys mutation in the procollagen type II gene (COL2A1) (Q55670935) (← links)
- Localization of the expression of type I, II and III collagen genes in human normal and hypochondrogenesis cartilage canals (Q72512894) (← links)