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2
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3
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Oculoleptomeningeal amyloidosis in a large kindred with a new transthyretin variant Tyr69His.
Neurology. 2003 May 27;60(10):1625-30. doi: 10.1212/01.wnl.0000065901.18353.ab.
5
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The course and prognostic factors of familial amyloid polyneuropathy after liver transplantation.
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Transthyretin Leu12Pro is associated with systemic, neuropathic and leptomeningeal amyloidosis.
Brain. 1999 Feb;122 ( Pt 2):183-90. doi: 10.1093/brain/122.2.183.
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Transthyretin amyloidosis: a new mutation associated with dementia.
Ann Neurol. 1997 Mar;41(3):307-13. doi: 10.1002/ana.410410305.
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