Novel twelve-generation kindred of fatal familial insomnia from Germany representing the entire spectrum of disease expression

American Journal of Medical Genetics

Volumn 87, Issue 4, 1999, Pages 311-316

  Harder, Anja ^a   Jendroska, Klaus ^a   Kreuz, Friedmar ^b   Wirth, Torsten ^c   Schafranka, Constanze ^a   Karnatz, Nadja ^a   Théallier Janko, Aguta ^a   Dreier, Jens ^a   Lohan, Karsten ^a   Emmerich, Dirk ^d   Cervós Navarro, Jorge ^a   Windl, Otto ^e   Kretzschmar, Hans A ^e   Nürnberg, Peter ^a   Witkowski, Regine ^a  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b UNIVERSITY HOSPITAL CARL GUSTAV CARUS   (Germany)

^c Kliniken Erlabrunn GmbH   (Germany)

^d UNIVERSITY OF FREIBURG   (Germany)

^e UNIVERSITY OF GÖTTINGEN   (Germany)

Author keywords

CJD; Creutzfeldt Jakob disease; Fatal familial insomnia (FFI); fCJD; Prion disease; PRNP mutation D178N

Indexed keywords

ADULT; AGED; ARTICLE; CLINICAL FEATURE; CREUTZFELDT JAKOB DISEASE; DISEASE DURATION; FATAL FAMILIAL INSOMNIA; FEMALE; GENE MUTATION; GENETIC POLYMORPHISM; GERMANY; HETEROZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MALE; ONSET AGE; PEDIGREE; PRION DISEASE; PRIORITY JOURNAL;

AGE OF ONSET; AMYLOID; DNA; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FATAL OUTCOME; FEMALE; GENE EXPRESSION; GERMANY; HUMANS; MALE; PEDIGREE; POINT MUTATION; POLYMORPHISM, GENETIC; PRION DISEASES; PRIONS; PROTEIN PRECURSORS;

EID: 0032706491     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19991203)87:4<311::AID-AJMG6>3.0.CO;2-5     Document Type: Article

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