التفاصيل البيبلوغرافية
| العنوان: |
A novel mutation in PIEZO2 in a family presenting with autosomal dominant myopathy, ptosis, external ophthalmoplegia and distal symphalangism |
| المؤلفون: |
E. Harris, Volker Straub, Hanns Lochmüller, Marta Bertoli, Anna Sarkozy, Steve Laval, Stephen G. Lynch, Ana Töpf |
| المصدر: |
Neuromuscular Disorders. 25:S276-S277 |
| بيانات النشر: |
Elsevier BV, 2015. |
| سنة النشر: |
2015 |
| مصطلحات موضوعية: |
Distal symphalangism, business.industry, External ophthalmoplegia, Anatomy, Neurology, Ptosis, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), medicine.symptom, business, Myopathy, Novel mutation, Genetics (clinical) |
| تدمد: |
0960-8966 |
| الوصول الحر: |
https://explore.openaire.eu/search/publication?articleId=doi_________::1b38cc894901cccaca6331e3430f6990Test
https://doi.org/10.1016/j.nmd.2015.06.327Test |
| حقوق: |
CLOSED |
| رقم الانضمام: |
edsair.doi...........1b38cc894901cccaca6331e3430f6990 |
| قاعدة البيانات: |
OpenAIRE |
