An aggressive form of familial amyloid polyneuropathy caused by a Glu54Gly mutation in the transthyretin gene

European Journal of Neurology

Volumn 12, Issue 8, 2005, Pages 657-659

  Kim, H S ^a   Kim, S M ^b   Kang, S W ^b   Jung, S C ^c   Lee, K S ^c   Kim, T S ^b   Choi, Young Chul ^b,d  

^a CHA University   (South Korea)

^b Yonsei University College of Medicine   (South Korea)

^c Korea National Institute of Health   (South Korea)

^d Yonsei University College of Medicine   (South Korea)

Author keywords

Aggressive form; Familial amyloid polyneuropathy; Glu54Gly; Protective effect; Transthyretin gene mutation

Indexed keywords

GENOMIC DNA; GLUTAMIC ACID; GLYCINE; PREALBUMIN;

ADULT; ARTICLE; CARDIOMYOPATHY; CASE REPORT; CLINICAL FEATURE; ECHOCARDIOGRAPHY; FAMILIAL AMYLOID POLYNEUROPATHY; FEMALE; GENE AMPLIFICATION; GENE MUTATION; HUMAN; HUMAN TISSUE; LABORATORY TEST; NEUROLOGIC EXAMINATION; PHYSICAL EXAMINATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

AMYLOID NEUROPATHIES, FAMILIAL; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GLUTAMIC ACID; GLYCINE; HUMANS; MALE; MUTATION; NERVE FIBERS, MYELINATED; PREALBUMIN; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER;

EID: 23644453659     PISSN: 13515101     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1468-1331.2005.01005.x     Document Type: Article

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