دورية أكاديمية
Exome sequencing in suspected monogenic dyslipidemias
| العنوان: | Exome sequencing in suspected monogenic dyslipidemias |
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| المؤلفون: | Stitziel, N., Peloso, G., Abifadel, M., Fouchier, S., Motazacker, M., Tada, H., Larach, D., Awan, Z., Haller, J., Pullinger, C., Varret, M., Rabès, J., Tarugi, P., Kawashiri, M., Nohara, A., Yamagishi, M., Risman, M., Deo, R., Ruel, I., Shendure, J., Nickerson, D., Wilson, J., Rich, S., Gupta, N., Farlow, D., Neale, B., Daly, M., Kane, J., Freeman, M., Genest, J., Rader, D., Mabuchi, H., Kastelein, J., Hovingh, G., Gabriel, S., Boileau, C., Kathiresan, S., CEFALU', Angelo Baldassare, NOTO, Davide, AVERNA, Maurizio |
| المساهمون: | Stitziel, N., Peloso, G., Abifadel, M., Cefalu, A., Fouchier, S., Motazacker, M., Tada, H., Larach, D., Awan, Z., Haller, J., Pullinger, C., Varret, M., Rabès, J., Noto, D., Tarugi, P., Kawashiri, M., Nohara, A., Yamagishi, M., Risman, M., Deo, R., Ruel, I., Shendure, J., Nickerson, D., Wilson, J., Rich, S., Gupta, N., Farlow, D., Neale, B., Daly, M., Kane, J., Freeman, M., Genest, J., Rader, D., Mabuchi, H., Kastelein, J., Hovingh, G., Averna, M., Gabriel, S., Boileau, C., Kathiresan, S. |
| بيانات النشر: | Lippincott Williams & Wilkins |
| سنة النشر: | 2015 |
| المجموعة: | IRIS Università degli Studi di Palermo |
| مصطلحات موضوعية: | DNA sequencing, exome, genetic, human, lipids, Settore MED/09 - Medicina Interna |
| الوصف: | Exome sequencing is a promising tool for gene mapping in Mendelian disorders. We used this technique in an attempt to identify novel genes underlying monogenic dyslipidemias. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| العلاقة: | info:eu-repo/semantics/altIdentifier/pmid/25632026; info:eu-repo/semantics/altIdentifier/wos/WOS:000353309600013; volume:8; issue:2; firstpage:343; lastpage:350; numberofpages:8; journal:CIRCULATION. CARDIOVASCULAR GENETICS; http://hdl.handle.net/10447/127406Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84941665685 |
| DOI: | 10.1161/CIRCGENETICS.114.000776 |
| الإتاحة: | https://doi.org/10.1161/CIRCGENETICS.114.000776Test http://hdl.handle.net/10447/127406Test |
| حقوق: | info:eu-repo/semantics/openAccess |
| رقم الانضمام: | edsbas.1E797F5F |
| قاعدة البيانات: | BASE |
| DOI: | 10.1161/CIRCGENETICS.114.000776 |
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