Functional variation of the transthyretin gene among human populations and its correlation with amyloidosis phenotypes

Amyloid

Volumn 20, Issue 4, 2013, Pages 256-262

  Polimanti, Renato ^a   Di Girolamo, Marco ^b   Manfellotto, Dario ^b   Fuciarelli, Maria ^a  

^a UNIVERSITY OF ROME TOR VERGATA   (Italy)

^b SAN GIOVANNI CALIBITA FATEBENEFRATELLI HOSPITAL   (Italy)

Author keywords

African ancestry; Ethnicity; Functional prediction analysis; Non coding variants; Transthyretin related amyloidosis

Indexed keywords

PREALBUMIN; TRANSCRIPTION FACTOR; VALINE;

AFRICA; AMYLOIDOSIS; ARTICLE; BINDING SITE; CLUSTER ANALYSIS; DATA BASE; ETHNIC DIFFERENCE; EXON; GENE FREQUENCY; GENE FUNCTION; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; GEOGRAPHIC DISTRIBUTION; GEOGRAPHIC ORIGIN; HAPLOTYPE; HEART DEVELOPMENT; HETEROZYGOTE; HUMAN; INTRON; MUTATION; PHENOTYPE; PHENOTYPIC VARIATION; POPULATION; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN FUNCTION; SINGLE NUCLEOTIDE POLYMORPHISM;

AFRICAN CONTINENTAL ANCESTRY GROUP; AMYLOIDOSIS; GENOTYPE; HAPLOTYPES; HUMANS; MUTATION; PREALBUMIN;

EID: 84888062740     PISSN: 13506129     EISSN: 17442818     Source Type: Journal    
DOI: 10.3109/13506129.2013.844689     Document Type: Article

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