1-1 of 1
Keywords: COL4A5
Follow your search
Access your saved searches in your account

Would you like to receive an alert when new items match your search?
Close Modal
Sort by
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