Article
Hereditary amyloid cardiomyopathy caused by a variant apolipoprotein A1.
The American journal of pathology - 1 Jan 1999
Hamidi Asl L, Liepnieks J J, Hamidi Asl K, Uemichi T, Moulin G, Desjoyaux E, Loire R, Delpech M, Grateau G, Benson M D
Abstract excerpt
Autosomal dominant hereditary amyloidosis with a unique cutaneous and cardiac presentation and death from heart failure by the sixth or seventh decade was found to be associated with a previously unreported point mutation (thymine to cytosine, nt 1389) in exon 4 of the apolipoprotein A1 (apoA1) gene. The predicted substitution of proline for leucine at amino acid position 90 was confirmed by structural analysis...
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