دورية أكاديمية
Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis
| العنوان: | Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis |
|---|---|
| المؤلفون: | Nizon, Mathilde, Huber, Céline, Al Gazali, Lihadh, Basaran, Sarenur Yilmaz, Clayton-Smith, Jill, Désir, Julie, Gill, Harinder, Greally, Marie T., Koparir, Erkan, van Maarle, Merel C., Mackay, Sara, Mortier, Geert, de Leonardis, Fabio, Morton, Jenny, Sillence, David, Vilain, Catheline, Young, Ian D., Zerres, Klaus, Le Merrer, Martine, Munnich, Arnold, Le Goff, Carine, Rossi, Antonio, Cormier-Daire, Valérie, Merrina, Rodolphe, Forlino, Antonella, Fradin, Mélanie, Tuysuz, Beyhan, Abu-Libdeh, Bassam Y., Alanay, Yasemin, Albrecht, Beate |
| المصدر: | Human mutation 33(8), (2012). doi:10.1002/humu.22104 |
| بيانات النشر: | Wiley-Liss |
| سنة النشر: | 2012 |
| المجموعة: | RWTH Aachen University: RWTH Publications |
| جغرافية الموضوع: | DE |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| العلاقة: | info:eu-repo/semantics/altIdentifier/wos/WOS:000306375800017; info:eu-repo/semantics/altIdentifier/pmid/pmid:22539336; info:eu-repo/semantics/altIdentifier/issn/1098-1004; info:eu-repo/semantics/altIdentifier/issn/1059-7794; https://publications.rwth-aachen.de/record/156933Test; https://publications.rwth-aachen.de/search?p=id:%22RWTH-CONV-035222%22Test |
| الإتاحة: | https://doi.org/10.1002/humu.22104Test https://publications.rwth-aachen.de/record/156933Test https://publications.rwth-aachen.de/search?p=id:%22RWTH-CONV-035222%22Test |
| حقوق: | info:eu-repo/semantics/closedAccess |
| رقم الانضمام: | edsbas.217E9A3C |
| قاعدة البيانات: | BASE |
| الوصف غير متاح. |