يعرض 1 - 10 نتائج من 113 نتيجة بحث عن '"Kelch protein"', وقت الاستعلام: 0.78s تنقيح النتائج
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    المساهمون: Clinicum, Department of Dermatology, Allergology and Venereology

    وصف الملف: application/pdf

    العلاقة: The research was funded by a grant (Has 1) from Debra International to C.H. Y.H. was partially supported by Collaborative Research Centre 1140. We thank the families for their participation; Leena Bruckner-Tuderman for critical reading of the manuscript and discussions; Amelie Honinger, Gabriele Gruninger, Amelie Gruler, Kathe Thoma, Vera Morand, and Jannis Athanasiou for excellent support; Dr. Fernando Larcher (CIEMAT-CIBER, Madrid, Spain) for the E6E7 construct; Dr. Stefanie Loffek for reagents; Dr. Jurgen Kohlhase (Center for Human Genetics Freiburg); BGI Genomics for sequencing; and the Life Imaging Center's Center for Biological Systems Analysis (ZBSA) of the Albert-Ludwigs-University microscopy platform for excellent support.; He , Y , Maier , K , Leppert , J , Hausser , I , Schwieger-Briel , A , Weibel , L , Theiler , M , Kiritsi , D , Busch , H , Boerries , M , Hannula-Jouppi , K , Heikkilä , H , Tasanen , K , Castiglia , D , Zambruno , G & Has , C 2016 , ' Monoallelic Mutations in the Translation Initiation Codon of KLHL24 Cause Skin Fragility ' , American Journal of Human Genetics , vol. 99 , no. 6 , pp. 1395-1404 . https://doi.org/10.1016/j.ajhg.2016.11.005Test; 85003946084; 2eb8b98f-10b8-4a6f-99b4-07ce95cf6f43; http://hdl.handle.net/10138/230022Test; 000389148600015

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    صورة