A new mutation (TTR Ala-47) in the transthyretin gene associated with hereditary amyloidosis. A new mutation (TTR ala-47) in the transthyretin gene associated with hereditary amyloidosis. Hum Mutat. 1994;4:61-4.Ferlini A, Patrosso MC, Repetto......
retention pattern showed a heart-to-contralateral lung (H/Cl) ratio of 1.66 (Figure 5), strongly suggestive of amyloid deposition. To differentiate the type of cardiac amyloidosis, genetic testing was obtained and revealed a heterozygous pathogenic mutation in the TTR gene, diagnostic for TTR ...