Creutzfeldt-Jakob disease segregating in a three generation Danish family

Acta Neurologica Scandinavica

Volumn 103, Issue 3, 2001, Pages 139-147

  Holm, I E ^a   Bojsen Moller K ^a   Nielsen, A L ^a,b   Jorgensen A L ^a,b  

^a AARHUS UNIVERSITY HOSPITAL   (Denmark)

^b AARHUS UNIVERSITY   (Denmark)

Author keywords

Codon 129 polymorphism; D178N mutation; Phenotypic variability; PrP immunohistochemistry

Indexed keywords

ASPARAGINE; ASPARTIC ACID; METHIONINE; VALINE;

ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CODON; CREUTZFELDT JAKOB DISEASE; DNA POLYMORPHISM; ELECTROENCEPHALOGRAM; FAMILY STUDY; HETEROZYGOSITY; HUMAN; NEUROPATHOLOGY; PEDIGREE; PHENOTYPE; SEGREGATION ANALYSIS;

ADULT; AGE OF ONSET; AGED; AGED, 80 AND OVER; ALLELES; ASPARAGINE; ASPARTIC ACID; CREUTZFELDT-JAKOB SYNDROME; DISEASE PROGRESSION; ELECTROENCEPHALOGRAPHY; FEMALE; HIPPOCAMPUS; HUMANS; IMMUNOHISTOCHEMISTRY; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; PEDIGREE; PHENOTYPE; POINT MUTATION; POLYMORPHISM, GENETIC; PRIONS;

EID: 0035134380     PISSN: 00016314     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1600-0404.2001.103003139.x     Document Type: Article

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