Identification of three novel mutations (E196K, V203I, E211Q) in the prion protein gene (PRNP) in inherited prion diseases with Creutzfeldt-Jakob disease phenotype.

Human mutation

Volumn 15, Issue 5, 2000, Pages 482-

  Peoc'h, K ^a   Manivet, P ^a   Beaudry, P ^a   Attane, F ^a   Besson, G ^a   Hannequin, D ^a   Delasnerie Laupretre N ^a   Laplanche, J L ^a  

^a HÔPITAL LARIBOISIÈRE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

AMYLOID; GLUTAMIC ACID; GLUTAMINE; INFECTIOUS AMYLOID PRECURSOR PROTEIN; ISOLEUCINE; LYSINE; PRNP PROTEIN, HUMAN; PROTEIN PRECURSOR; VALINE;

AGED; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CREUTZFELDT JAKOB DISEASE; FEMALE; GENETICS; HUMAN; MALE; MIDDLE AGED; MISSENSE MUTATION; PHENOTYPE; PRION;

AGED; AMINO ACID SUBSTITUTION; AMYLOID; CREUTZFELDT-JAKOB SYNDROME; FEMALE; GLUTAMIC ACID; GLUTAMINE; HUMANS; ISOLEUCINE; LYSINE; MALE; MIDDLE AGED; MUTATION, MISSENSE; PHENOTYPE; PRIONS; PROTEIN PRECURSORS; VALINE;

EID: 0034185689     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(200005)15:5<482::AID-HUMU16>3.0.CO;2-1     Document Type: Article

References (0)