Incorporation of Structurally Defective Type II Collagen into Cartilage Matrix in Kniest Chondrodysplasia
Author:
Publisher
Elsevier BV
Subject
Molecular Biology,Biochemistry,Biophysics
Reference47 articles.
1. Glycine to serine substitution in the triple helical domain of pro-α 1 (II) collagen results in a lethal perinatal form of short-limbed dwarfism
2. An amino acid substitution (Gly853–>Glu) in the collagen alpha 1(II) chain produces hypochondrogenesis.
3. 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
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