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A novel homozygous COL11A2 deletion causes a C-terminal protein truncation with incomplete mRNA decay in a Turkish patient |
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| Authors: | Kayserili Hülya Wollnik Bernd Güven Gamze Emiroğlu Melike Ulubil Başerer Nermin Uyguner Z Oya |
| Affiliation: | Medical Genetics Department, Istanbul University, Turkey. hkayseri@istanbul.edu.tr |
| Abstract: | |
| Keywords: | otospondylomegaepiphyseal dysplasia (OSMED) mutation COL11A2 mRNA decay |
| 本文献已被 PubMed 等数据库收录！ | |