دورية أكاديمية
P.156 Novel repeat expansions in PLIN4 in two Spanish families suffering from autosomal dominant distal myopathy with unique pathological features
| العنوان: | P.156 Novel repeat expansions in PLIN4 in two Spanish families suffering from autosomal dominant distal myopathy with unique pathological features |
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| المؤلفون: | Olivé, M., Stevanovski, I., Quereda, L. González, Morris, G., Segarra-Casas, A., Rodriguez-Santiago, B., Gallano, P., Alvarez, R., Vesperinas, A., Millan, B. San, Navarro, C., Ravenscroft, G., Illa, I., Deveson, I., Gallardo, E. |
| المصدر: | Neuromuscular Disorders ; volume 32, page S110 ; ISSN 0960-8966 |
| بيانات النشر: | Elsevier BV |
| سنة النشر: | 2022 |
| المجموعة: | ScienceDirect (Elsevier - Open Access Articles via Crossref) |
| مصطلحات موضوعية: | Genetics (clinical), Neurology (clinical), Neurology, Pediatrics, Perinatology and Child Health |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| DOI: | 10.1016/j.nmd.2022.07.284 |
| الإتاحة: | https://doi.org/10.1016/j.nmd.2022.07.284Test https://api.elsevier.com/content/article/PII:S0960896622004862?httpAccept=text/xmlTest https://api.elsevier.com/content/article/PII:S0960896622004862?httpAccept=text/plainTest |
| حقوق: | https://www.elsevier.com/tdm/userlicense/1.0Test/ |
| رقم الانضمام: | edsbas.7F063AC9 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1016/j.nmd.2022.07.284 |
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