Inherited prion disease with 5-OPRI: Phenotype modification by repeat length and codon 129

Neurology

Volumn 69, Issue 8, 2007, Pages 730-738

  Mead, S ^a   Webb, T E F ^a   Campbell, T A ^a   Beck, J ^a   Linehan, J M ^a   Rutherfoord, S ^c   Joiner, S ^a   Wadsworth, J D F ^a   Heckmann, J ^d   Wroe, S ^a   Doey, L ^b   King, A ^b   Collinge, J ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b KING S COLLEGE HOSPITAL   (United Kingdom)

^c STELLENBOSCH UNIVERSITY   (South Africa)

^d UNIVERSITY OF CAPE TOWN   (South Africa)

Author keywords

[No Author keywords available]

Indexed keywords

OCTAPEPTIDE; PRION PROTEIN;

ADULT; ARTICLE; CLINICAL FEATURE; CODON; CREUTZFELDT JAKOB DISEASE; FEMALE; GENE DELETION; GENE INSERTION SEQUENCE; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC POLYMORPHISM; GENOTYPE PHENOTYPE CORRELATION; HERITABILITY; HUMAN; HUMAN TISSUE; KURU; MALE; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; PHENOTYPIC PLASTICITY; PRION DISEASE; PRIORITY JOURNAL; SOUTH AFRICA; TANDEM REPEAT; VISUAL IMPAIRMENT;

ADULT; CODON; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; GENOTYPE; HUMANS; MALE; MIDDLE AGED; MUTATION; NORTHERN IRELAND; PEDIGREE; PHENOTYPE; POLYMORPHISM, GENETIC; PRION DISEASES; PRIONS; REPETITIVE SEQUENCES, AMINO ACID; SOUTH AFRICA;

EID: 34548137339     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.wnl.0000267642.41594.9d     Document Type: Article

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