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    Hum Genet. 1992 May;89(3):353-6.

    Transthyretin Pro55, a variant associated with early-onset, aggressive, diffuse amyloidosis with cardiac and neurologic involvement.

    Jacobson DR, McFarlin DE, Kane I, Buxbaum JN.

    Source

    Research Service, New York V.A. Medical Center, New York 10010.

    Abstract

    Mutations in the protein transthyretin cause amyloidosis involving the heart, peripheral nerves, and other organs. A family from West Virginia developed an unusually aggressive form of widespread transthyretin amyloidosis. Single-strand conformation polymorphism analysis revealed a variant in the transthyretin gene, which was found on sequencing to be a T----C transversion at position 2 of codon 55, corresponding to a Leu----Pro substitution. The variant sequence was confirmed by restriction analysis and polymerase chain reaction (PCR)-primer introduced restriction analysis.

    PMID:
    1351039
    [PubMed - indexed for MEDLINE]

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