Novel PRNP sequence variant associated with familial encephalopathy

American Journal of Medical Genetics - Neuropsychiatric Genetics

Volumn 88, Issue 6, 1999, Pages 653-656

  Cervenáková, Larisa ^a,b   Buetefisch, Cathrin ^a   Lee, Hee Suk ^a   Taller, Inna ^a   Stone, Gary ^a   Gibbs Jr , Clarence J ^a   Brown, Paul ^a   Hallett, Mark ^a   Goldfarb, Lev G ^a,c  

^a NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^b HOLLAND LABORATORY   (United States)

^c NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

Creutzfeldt Jakob disease; Gerstmann Straussler Scheinker disease; Human spongiform encephalopathy; Point mutation; Prion disease; PRNP gene

Indexed keywords

ARTICLE; CHROMOSOME 20P; CLINICAL ARTICLE; CONTROLLED STUDY; CREUTZFELDT JAKOB DISEASE; ELECTROENCEPHALOGRAPHY; GENE; GENE MUTATION; GENE SEQUENCE; GERSTMANN STRAUSSLER SCHEINKER SYNDROME; HUMAN; IMAGING; POINT MUTATION; POLYMERASE CHAIN REACTION; PRION DISEASE; PRIORITY JOURNAL;

ADULT; AGE OF ONSET; AMINO ACID SUBSTITUTION; AMYLOID; BASE SEQUENCE; DEOXYRIBONUCLEASES, TYPE II SITE-SPECIFIC; DNA MUTATIONAL ANALYSIS; ENGLAND; FEMALE; GENES, DOMINANT; GERSTMANN-STRAUSSLER-SCHEINKER DISEASE; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PRIONS; PROTEIN PRECURSORS; PROTEIN STRUCTURE, TERTIARY; UNITED STATES; VARIATION (GENETICS);

EID: 0344614653     PISSN: 15524841     EISSN: 1552485X     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19991215)88:6<653::AID-AJMG14>3.0.CO;2-E     Document Type: Article

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