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Keywords: COL4A5
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Articles
Yun Miao, Jun Xiong, Xuelian Zhang, Huajie Huang, Lixin Yu, Jianfan Chen, Wenfeng Deng, Huiling Xu, Rumin Liu, Chenglin Xiang, Xiangmin Xu, Fu Xiong
Journal:
Clinical Science
Clin Sci (Lond) (2017) 131 (19): 2427–2438.
Published: 22 September 2017
... with thalassemia minor in the family. In addition, a collagen type IV α 5 chain ( COL4A5 ) variant (c.2858G>T, rs78972735), annotated as a pathogenic mutation in dbSNP and human gene mutation database (HGMD), was found in four family members with no clinical traits of AS. A novel pathogenic PKD1 mutation (c...
Includes: Supplementary data
