دورية أكاديمية
A new mutation for Huntington disease following maternal transmission of an intermediate allele
| العنوان: | A new mutation for Huntington disease following maternal transmission of an intermediate allele |
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| المؤلفون: | Semaka, A., Kay, C., Belfroid, R.D.M., Bijlsma, E.K., Losekoot, M., Langen, I.M. van, Maarle, M.C. van, Oosterloo, M., Hayden, M.R., Belzen, M.J. van |
| المصدر: | European Journal of Medical Genetics |
| سنة النشر: | 2015 |
| المجموعة: | Leiden Repository (Leiden University) |
| مصطلحات موضوعية: | Huntington disease, Intermediate allele, New mutation, Maternal CAG repeat expansion, HTT gene |
| الوصف: | Genetics of disease, diagnosis and treatment |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| العلاقة: | lumc-id: 4301081; https://hdl.handle.net/1887/107446Test |
| DOI: | 10.1016/j.ejmg.2014.11.005 |
| الإتاحة: | https://doi.org/10.1016/j.ejmg.2014.11.005Test https://hdl.handle.net/1887/107446Test |
| رقم الانضمام: | edsbas.524535CC |
| قاعدة البيانات: | BASE |
| DOI: | 10.1016/j.ejmg.2014.11.005 |
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