دورية أكاديمية
Clinical and genetic characteristics of hereditary laminopathies
| العنوان: | Clinical and genetic characteristics of hereditary laminopathies |
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| المؤلفون: | E. L. Dadaly, D. S. Bileva, I. V. Ugarov |
| المصدر: | Анналы клинической и экспериментальной неврологии, Vol 2, Iss 4, Pp 28-33 (2017) |
| بيانات النشر: | Research Center of Neurology, 2017. |
| سنة النشر: | 2017 |
| المجموعة: | LCC:Neurosciences. Biological psychiatry. Neuropsychiatry |
| مصطلحات موضوعية: | lamins, laminopathies, etiology, pathogenesis, clinical-genetic characteristics, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571 |
| الوصف: | Naminopathies belong to a wide allelic series of diseases caused by mutations of one gene, LMNA, encoding for protein lamin A/C. Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive EmeryDreifuss muscular dystrophy, dilated cardiomyopathy 1A, familial partial lipodystrophy, atypical Werners syndrome, HutchinsonGilford progeria and motor-sensory neuropathy type 2B1. In the review, the lamin structure and functions, clinical characteristics of hereditarylaminopathies, their etiology, pathogenesis and molecularbases are discussed. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English Russian |
| تدمد: | 2075-5473 2409-2533 23961473 |
| العلاقة: | https://annaly-nevrologii.com/journal/pathID/article/viewFile/389/292Test; https://doaj.org/toc/2075-5473Test; https://doaj.org/toc/2409-2533Test |
| DOI: | 10.17816/psaic389 |
| الوصول الحر: | https://doaj.org/article/879e2b9209a34a2396147357c50b992eTest |
| رقم الانضمام: | edsdoj.879e2b9209a34a2396147357c50b992e |
| قاعدة البيانات: | Directory of Open Access Journals |
| تدمد: | 20755473 24092533 23961473 |
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| DOI: | 10.17816/psaic389 |