Homozygosity for a splice site mutation of the COL1A2 gene yields a non-functional proalpha2(I) chain and an EDS/OI clinical phenotype
Open Access
- 1 February 2001
- journal article
- Published by BMJ in Journal of Medical Genetics
- Vol. 38 (2) , 132-136
- https://doi.org/10.1136/jmg.38.2.132
Abstract
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