Haplotypes and DNA sequence variation within and surrounding the transthyretin gene: Genotype-phenotype correlations in familial amyloid polyneuropathy (V30M) in Portugal and Sweden

European Journal of Human Genetics

Volumn 12, Issue 3, 2004, Pages 225-237

  Soares, Miguel Luz ^a,b   Coelho, Teresa ^b,c   Sousa, Alda ^b,d   Holmgren, Gösta ^e   Saraiva, Maria João ^b,d   Kastner, Daniel L ^f   Buxbaum, Joel N ^a  

^a SCRIPPS RESEARCH INSTITUTE   (United States)

^b UNIVERSITY OF PORTO   (Portugal)

^c Centro de Estudos de Paramiloidose   (Portugal)

^d UNIVERSITY OF PORTO   (Portugal)

^e UMEÅ UNIVERSITY   (Sweden)

^f NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES   (United States)

Author keywords

Disease onset; Familial amyloid polyneuropathy; Haplotypes; Phenotypic heterogeneity; Transthyretin; V30M mutation

Indexed keywords

GENOMIC DNA; MICROSATELLITE DNA; PREALBUMIN;

ADULT; AGED; ARTICLE; CONTROLLED STUDY; DINUCLEOTIDE REPEAT; DNA FLANKING REGION; DNA POLYMORPHISM; DNA SEQUENCE; FAMILIAL AMYLOID POLYNEUROPATHY; FEMALE; GENE DELETION; GENE INSERTION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HAPLOTYPE; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; PHENOTYPIC VARIATION; PORTUGAL; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SWEDEN; SYMPTOMATOLOGY; UNTRANSLATED REGION; WILD TYPE;

ADULT; AGE OF ONSET; AGED; AMYLOID NEUROPATHIES, FAMILIAL; BASE SEQUENCE; FEMALE; GENE FREQUENCY; HAPLOTYPES; HUMANS; MALE; MICROSATELLITE REPEATS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; PORTUGAL; PREALBUMIN; SEQUENCE ANALYSIS, DNA; SWEDEN; VARIATION (GENETICS);

INSERTION SEQUENCES;

EID: 14044249894     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201095     Document Type: Article

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