Production and characterization of CSSI003 (2961) human induced pluripotent stem cells (iPSCs) carrying a novel puntiform mutation in RAI1 gene, Causative of Smith–Magenis syndrome

التفاصيل البيبلوغرافية
العنوان:	Production and characterization of CSSI003 (2961) human induced pluripotent stem cells (iPSCs) carrying a novel puntiform mutation in RAI1 gene, Causative of Smith–Magenis syndrome
المؤلفون:	Filomena Altieri, Elisa Maria Turco, Ersilia Vinci, Barbara Torres, Daniela Ferrari, Antonella De Jaco, Gianluigi Mazzoccoli, Giuseppe Lamorte, Annamaria Nardone, Matteo Della Monica, Laura Bernardini, Angelo Luigi Vescovi, Jessica Rosati
المصدر:	Stem Cell Research, Vol 28, Iss , Pp 153-156 (2018)
بيانات النشر:	Elsevier, 2018.
سنة النشر:	2018
المجموعة:	LCC:Biology (General)
مصطلحات موضوعية:	Biology (General), QH301-705.5
الوصف:	Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by developmental delay, behavioural problems and circadian rhythm dysregulation. About 90% of SMS cases are due to a 17p11.2 deletion containing retinoic acid induced1 (RAI1) gene, 10% are due to heterozygous mutations affecting RAI1 coding region. Little is known about RAI1 role.
نوع الوثيقة:	article
وصف الملف:	electronic resource
اللغة:	English
تدمد:	1873-5061
العلاقة:	http://www.sciencedirect.com/science/article/pii/S187350611830059XTest; https://doaj.org/toc/1873-5061Test
DOI:	10.1016/j.scr.2018.02.016
الوصول الحر:	https://doaj.org/article/404a5a3c638b401ebbc749f36ad597b3Test
رقم الانضمام:	edsdoj.404a5a3c638b401ebbc749f36ad597b3
قاعدة البيانات:	Directory of Open Access Journals

الوصف
تدمد:	18735061
DOI:	10.1016/j.scr.2018.02.016