Loss-of-Function FERMT1 Mutations in Kindler Syndrome Implicate a Role for Fermitin Family Homolog-1 in Integrin Activation
نویسندگان
چکیده
منابع مشابه
Novel and recurrent FERMT1 gene mutations in Kindler syndrome.
Kindler syndrome (OMIM 173650) is an autosomal recessive condition characterized by skin blistering, skin atrophy, photosensitivity, colonic inflammation and mucosal stenosis. Fewer than 100 cases have been described in the literature. First reported in 1954, the molecular basis of Kindler syndrome was elucidated in 2003 with the discovery of FERMT1 (KIND1) loss-of-function mutations in affecte...
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Vol. 28, No. 4, 2016 503 Received May 8, 2015, Revised July 25, 2015, Accepted for publication July 27, 2015 Corresponding author: Soo-Chan Kim, Department of Dermatology, Gangnam Severance Hospital, Yonsei University College of Medicine, 211 Eonju-ro, Gangnam-gu, Seoul 06273, Korea. Tel: 82-2-2019-3362, Fax: 82-2-3463-6136, E-mail: [email protected] This is an Open Access article distributed under...
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چکیده ارتباط در کلاس به عوامل زیادی از جمله معلمان، دانش آموزان، برنامه های درسی و از همه مهم تر، مواد آموزشی وابسته است. در تدریس ارتباطی زبان که تاکید زیادی بر توانش ارتباطی دارد، کتاب درسی به عنوان عامل موثر بر پویایی کلاس محسوب میگردد که درس ها را از طریق فراهم آوردن متن ارتباط کلاسی و هم چنین نوع تمرین زبانی که دانش آموزان در طول فعالیت های کلاسی به آن مشغول اند، کنترل می کند. این حقیقت ک...
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ژورنال
عنوان ژورنال: The American Journal of Pathology
سال: 2009
ISSN: 0002-9440
DOI: 10.2353/ajpath.2009.081154