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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.
Bonaventure J, Cohen-Solal L, Ritvaniemi P, Van Maldergem L, Kadhom N, Delezoide AL, Maroteaux P, Prockop DJ, Ala-Kokko L. Bonaventure J, et al. Among authors: cohen solal l. Biochem J. 1995 May 1;307 ( Pt 3)(Pt 3):823-30. doi: 10.1042/bj3070823. Biochem J. 1995. PMID: 7741714 Free PMC article.
Collagen disorders and skeletal dysplasias.
Bonaventure J, Cohen-Solal L, Maroteaux P. Bonaventure J, et al. Curr Opin Rheumatol. 1990 Feb;2(1):38-43. doi: 10.1097/00002281-199002010-00007. Curr Opin Rheumatol. 1990. PMID: 2223453 Review. No abstract available.
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