A rare transthyretin mutation (Asp18Glu) associated with cardiomyopathy

Amyloid

Volumn 11, Issue 1, 2004, Pages 61-66

  Connors, Lawreen Heller ^a   Yamashita, Taro ^b   Yazaki, Masahide ^b   Skinner, Martha ^a   Benson, Merrill D ^b  

^a BOSTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b INDIANA UNIVERSITY   (United States)

Author keywords

Cardiomyapathy; Familial amyloidosis; Mutation; Transthyretin

Indexed keywords

ASPARTIC ACID; DNA; GLUTAMIC ACID; PREALBUMIN;

ADULT; AGED; ANAMNESIS; ARTICLE; BIOCHEMISTRY; BIOPSY; BLOOD EXAMINATION; CARDIOMYOPATHY; CLINICAL ARTICLE; CLINICAL FEATURE; CODON; CONTROLLED STUDY; DIFFERENTIAL DIAGNOSIS; DNA SEQUENCE; EXON; FAMILIAL AMYLOIDOSIS; FEMALE; GENE MUTATION; HUMAN; LABORATORY TEST; MALE; MASS SPECTROMETRY; MOLECULAR GENETICS; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN VARIANT; RADIOACTIVITY; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SILVER STAINING; SINGLE STRAND CONFORMATION POLYMORPHISM;

AMINO ACID SUBSTITUTION; AMYLOIDOSIS, FAMILIAL; ASPARTIC ACID; CARDIOMYOPATHIES; EXONS; GLUTAMIC ACID; HUMANS; MALE; MASS SPECTROMETRY; MIDDLE AGED; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PREALBUMIN;

EID: 2542486675     PISSN: 13506129     EISSN: None     Source Type: Journal    
DOI: 10.1080/13506120410001682569     Document Type: Article

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