Susceptibility and modifier genes in Portuguese transthyretin V30M amyloid polyneuropathy: Complexity in a single-gene disease

Human Molecular Genetics

Volumn 14, Issue 4, 2005, Pages 543-553

  Soares, Miguel L ^a,b   Coelho, Teresa ^c,e   Sousa, Alda ^b,d   Batalov, Serge ^f   Conceição, Isabel ^g   Sales Luís, Maria L ^g   Ritchie, Marylyn D ^h   Williams, Scott M ^h,i   Nievergelt, Caroline M ^j   Schork, Nicholas J ^a,j   Saraiva, Maria João ^b,d   Buxbaum, Joel N ^a  

^a SCRIPPS RESEARCH INSTITUTE   (United States)

^b UNIVERSITY OF PORTO   (Portugal)

^c Neuropsychophysiology Unit   (Portugal)

^d UNIVERSITY OF PORTO   (Portugal)

^e Centro de Estudos de Paramiloidose   (Portugal)

^f GENOMICS INSTITUTE OF THE NOVARTIS RESEARCH FOUNDATION   (United States)

^g HOSPITAL DE SANTA MARIA   (Portugal)

^h VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

ⁱ VANDERBILT UNIVERSITY MEDICAL CENTER   (United States)

^j UNIVERSITY OF CALIFORNIA   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

AMYLOID PROTEIN; APOLIPOPROTEIN E; PENTRAXIN; PERLECAN; PREALBUMIN; RETINOL BINDING PROTEIN; RETINOL BINDING PROTEIN 4; UNCLASSIFIED DRUG;

ADULT; AGED; ALLELE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CONTROLLED STUDY; FAMILIAL AMYLOID POLYNEUROPATHY; FEMALE; GENE EXPRESSION; GENE INTERACTION; GENE LOCUS; GENETIC DISTANCE; GENETIC SUSCEPTIBILITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; ONSET AGE; PENETRANCE; PORTUGAL; PRIORITY JOURNAL; PROTEIN PROTEIN INTERACTION;

ADULT; AGE OF ONSET; AGED; AGED, 80 AND OVER; AMYLOID NEUROPATHIES; CASE-CONTROL STUDIES; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MIDDLE AGED; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; POLYMORPHISM, SINGLE NUCLEOTIDE; PORTUGAL; PREALBUMIN; RETINOL-BINDING PROTEINS; SERUM AMYLOID P-COMPONENT; VARIATION (GENETICS);

EID: 14044275133     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/ddi051     Document Type: Article

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