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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. Biochem J. 1995 May 1;307 ( Pt 3)(Pt 3):823-30. doi: 10.1042/bj3070823. Biochem J. 1995. PMID: 7741714 Free PMC article.
Abnormal FGFR 3 expression in cartilage of thanatophoric dysplasia fetuses.
Delezoide AL, Lasselin-Benoist C, Legeai-Mallet L, Brice P, Senée V, Yayon A, Munnich A, Vekemans M, Bonaventure J. Delezoide AL, et al. Among authors: bonaventure j. Hum Mol Genet. 1997 Oct;6(11):1899-906. doi: 10.1093/hmg/6.11.1899. Hum Mol Genet. 1997. PMID: 9302269
101 results