Topoisomerase I and II consensus sequences in a 17-kb deletion junction of the COL4A5 and COL4A6 genes and immunohistochemical analysis of esophageal leiomyomatosis associated with Alport syndrome.

Eitemau Tebyg

• The genes COL4A5 and COL4A6, coding for basement membrane collagen chains alpha 5(IV) and alpha 6(IV), are located head-to-head in close proximity on human chromosome Xq22 and COL4A6 is transcribed from two alternative promoters.
  gan: Sugimoto, M, et al.
  Cyhoeddwyd: (1994)
• COL4A6 is dispensable for autosomal recessive Alport syndrome
  gan: Murata, Tomohiro, et al.
  Cyhoeddwyd: (2016)
• Absence of the α6(IV) Chain of Collagen Type IV in Alport Syndrome Is Related to a Failure at the Protein Assembly Level and Does Not Result in Diffuse Leiomyomatosis
  gan: Zheng, Keqin, et al.
  Cyhoeddwyd: (1999)
• Novel mutations in COL4A3, COL4A4, and COL4A5 in Chinese patients with Alport Syndrome
  gan: Liu, Jian-Hong, et al.
  Cyhoeddwyd: (2017)
• COL4A3/COL4A4 Mutations and Features in Individuals with Autosomal Recessive Alport Syndrome
  gan: Storey, Helen, et al.
  Cyhoeddwyd: (2013)