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简要描述:Fibulin 5: A protein that belongs to a family of extracellular proteins expressed in the basement membranes of blood vessels. Fibulin 5 may be essential for the polymerization of elastin. Missense mutations in FBLN5, the gene that encodes fibulin 5, appear responsible for 1-2% of cases of age-related macular degeneration (AMD). FBLN5 is located on chromosome 14 in band 14q32.1. See also: Fibulin 3. May play a role in vascular growth and maturation during development and in lesions of injured
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更新时间:2025-03-09
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