| Literature DB >> 7914929 |
T Uemichi1, M A Gertz, M D Benson.
Abstract
We report studies on two German-American persons with systemic amyloidosis. Affected subjects presented with carpal tunnel syndrome in the sixth decade of life followed by peripheral neuropathy. DNA analysis of the transthyretin gene showed a new point mutation which is responsible for substitution of valine for isoleucine at position 107 of the transthyretin molecule.Entities:
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Year: 1994 PMID： 7914929 PMCID： PMC1049878 DOI： 10.1136/jmg.31.5.416
Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318