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.

Two different mutations were found in two unrelated probands with lethal chondrodysplasias, one with achondrogenesis type II and the other with the less severe phenotype of hypochondrogenesis. The mutations in the COL2A1 gene were identified by denaturing gradient gel electrophoresis analysis of gen...

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Detalhes bibliográficos
Main Authors: Bonaventure, J, Cohen-Solal, L, Ritvaniemi, P, Van Maldergem, L, Kadhom, N, Delezoide, A L, Maroteaux, P, Prockop, D J, Ala-Kokko, L
Formato: Artigo
Idioma:Inglês
Publicado em: 1995
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1136723/
https://ncbi.nlm.nih.gov/pubmed/7741714
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