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Keywords: immunophilin
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Biochem Soc Trans (2004) 32 (4): 643–645.
Published: 01 August 2004
... 2004 heat-shock protein immunophilin molecular chaperone proteasome retinal degeneration tetratricopeptide repeat LCA (Leber's congenital amaurosis) is inherited in an autosomal recessive manner and is characterized by severely impaired vision or blindness at birth. Mutations in AIPL1...