Homozygosity for a splice site mutation of the <i>COL1A2</i>gene yields a non-functional proα2(I) chain and an EDS/OI clinical phenotype
書誌事項
- 公開日
- 2001-02-01
- DOI
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- 10.1136/jmg.38.2.132
- 公開者
- BMJ
この論文をさがす
収録刊行物
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- Journal of Medical Genetics
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Journal of Medical Genetics 38 (2), 132-136, 2001-02-01
BMJ