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
Open Access
- 1 December 1998
- journal article
- case report
- Published by Springer Nature in Journal of Human Genetics
- Vol. 43 (4) , 259-261
- https://doi.org/10.1007/s100380050085
Abstract
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