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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...
We studied the expression of mRNAs coding for the α-subunit of the muscle nicotinic acetylcholine receptor (AChR)in thymomas from patients with myasthenia gravis (MG). Northern blot analysis failed to detect the expression, but amplification of mRNAs derived from thymomas by reverse transcription and polymerase chain reaction produced the DNA fragments containing the nucleotide sequence coding of...
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