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Novel ANKH Mutation in a Patient with Sporadic Craniometaphyseal Dysplasia
Craniometaphyseal dysplasia is caused by mutations in ANKH (ankylosis, progressive homolog (mouse)) in the majority of cases, and all of the reported mutations are single amino acid changes. Genomic DNA from an affected patient, his biological parents and a sibling was amplified and ANKH was sequenc...
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| Κύριοι συγγραφείς: | , , , , , , |
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| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
2010
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2944898/ https://ncbi.nlm.nih.gov/pubmed/20186813 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.33317 |
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