Novel missense mutation resulting in the substitution of tyrosine by cysteine at codon 597 of the type X collagen gene associated with Schmid metaphyseal chondrodysplasia.
| Autor: | Sawai, Hideaki, Ida, Akinori, Nakata, Yuko, Koyama, K. |
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| Zdroj: | Journal of Human Genetics. 1998, Vol. 43 Issue 4, p259. 3p. |
| Databáze: | Academic Search Ultimate |
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