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The clinical features of spondyloepiphyseal dysplasia congenita resulting from the substitution of glycine 997 by serine in the alpha 1(II) chain of type II collagen.
The features of a child with spondyloepiphyseal dysplasia congenita resulting from a mutation in one COL2A1 allele were studied. The child was heterozygous for a G to A transition in exon 48 that resulted in the substitution of glycine 997 by serine in the triple helical domain of alpha 1(II) chains...
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| Main Authors: | , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
1993
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1016230/ https://ncbi.nlm.nih.gov/pubmed/8423604 |
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