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Alexander disease
- ... identified more than 50 GFAP mutations that cause Alexander disease. Most of these mutations change one of the ... of myelin, causing the signs and symptoms of Alexander disease. More About This Health Condition FLJ45472 GFAP_HUMAN ...
- ... PubMed Giunta C, Steinmann B. Gene symbol: COL1A2. Disease: Ehlers-Danlos syndrome type VIIB. Hum Genet. 2008 Jun;123(5):540. No abstract available. Citation on PubMed Lim J, Grafe I, Alexander S, Lee B. Genetic causes and mechanisms of ...
- ... 1202051. Citation on PubMed Lim J, Grafe I, Alexander S, Lee B. Genetic causes and mechanisms of ... Shotelersuk V. Expanding the phenotypic spectrum of Caffey disease. Clin Genet. 2007 Mar;71(3):280-4. ...
- ... PubMed Central Ye Y, Cho MT, Retterer K, Alexander N, Ben-Omran T, Al-Mureikhi M, Cristian ...