Heterogeneity of penetrance in familial amyloid polyneuropathy, ATTR Val30Met, in the Swedish population

Amyloid

Volumn 15, Issue 3, 2008, Pages 181-186

  Hellman, Urban ^a   Alarcon, Flora ^b,c   Lundgren, Hans Erik ^a   Suhr, Ole B ^a   Bonaiti Pellié, Catherine ^b,c   Planté Bordeneuve, Violaine ^b,d  

^a UMEÅ UNIVERSITY   (Sweden)

^b INSERM   (France)

^c UNIVERSITÉ PARIS SACLAY   (France)

^d BICÊTRE HOSPITAL   (France)

Author keywords

Amyloidosis; Genetics; Penetrance; Swedish families; Transthyretin

Indexed keywords

METHIONINE; VALINE;

ARTICLE; DNA DETERMINATION; FAMILIAL AMYLOID POLYNEUROPATHY; FEMALE; GENE MUTATION; GENEALOGY; GENETIC ANALYSIS; GENETIC COUNSELING; GENETIC HETEROGENEITY; GENETIC VARIABILITY; GENOTYPE; HUMAN; MALE; PENETRANCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEX DIFFERENCE; SOUTHERN BLOTTING; SWEDEN;

ADULT; AGE OF ONSET; AGED; AGED, 80 AND OVER; AMYLOID NEUROPATHIES, FAMILIAL; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENETICS, POPULATION; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PENETRANCE; PREALBUMIN; SWEDEN;

EID: 54249138124     PISSN: 13506129     EISSN: 17442818     Source Type: Journal    
DOI: 10.1080/13506120802193720     Document Type: Article

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