A case of familial amyloidotic polyneuropathy with a rare Phe33Leu mutation in the TTR gene
Author:
Publisher
Elsevier BV
Subject
General Medicine
Reference5 articles.
1. Familial amyloid polyneuropathy;Planté-Bordeneuve;Lancet Neurol,2011
2. A second transthyretin mutation at position 33 (Leu/Phe) associated with familial amyloidotic polyneuropathy;Harding;Biochim Biophys Acta,1991
3. Two-tiered DNA-based diagnosis of transthyretin amyloidosis reveals two novel point mutations;Ii;Neurology,1991
4. Familial amyloid with a transthyretin leucine 33 mutation presenting with ascites;Myers;Am J Hematol,1998
5. A Swedish family with the rare Phe33Leu transthyretin mutation;Holmgren;Amyloid,2005
Cited by 4 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Unusual presentation of rare Phe33Leu mutation in hereditary TTR cardiac amyloidosis;Future Cardiology;2022-06
2. Transthyretin-related familial amyloid polyneuropathy (ATTR-FAP) in Poland — genetic and clinical presentation;Neurologia i Neurochirurgia Polska;2020-12-31
3. Spectrum of transthyretin gene mutations and clinical characteristics of Polish patients with cardiac transthyretin amyloidosis;Cardiology Journal;2020-08-11
4. Hereditary transthyretin amyloidosis caused by the rare Phe33Leu mutation;BMJ Case Reports;2020-01
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