Pseudo-dominant inheritance of a novel CTSF mutation associated with type B KUFS disease

Neurology

Volumn 83, Issue 19, 2014, Pages 1769-1770

  Fabio, Roberto Di ^a   Moro, Francesca ^b   Pestillo, Liliana ^c   Meschini, Maria C ^d   Pezzini, Francesco ^d   Doccini, Stefano ^b   Casali, Carlo ^a   Pierelli, Francesco ^a,e   Simonati, Alessandro ^d   Santorelli, Filippo M ^b  

^a SAPIENZA UNIVERSITY OF ROME   (Italy)

^b DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

^c ASL Fondi (LT)   (Italy)

^d UNIVERSITY OF VERONA   (Italy)

^e IRCCS NEUROMED   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CATHEPSIN F; LIPOFUSCIN; MESSENGER RNA; CTSF PROTEIN, HUMAN; PRESENILIN 1; PSEN1 PROTEIN, HUMAN; UBIQUITIN C;

ADULT; CASE REPORT; DEMENTIA; EXON; GENE MUTATION; GENETIC POLYMORPHISM; HUMAN; HUMAN TISSUE; NEURONAL CEROID LIPOFUSCINOSIS; NOTE; PRIORITY JOURNAL; SKIN FIBROBLAST; TONIC CLONIC SEIZURE; VERTICAL TRANSMISSION; YOUNG ADULT; FAMILY HEALTH; FEMALE; GENETICS; MALE; METABOLISM; MUTATION; PATHOLOGY; SKIN; ULTRASTRUCTURE;

ADULT; CATHEPSIN F; FAMILY HEALTH; FEMALE; HUMANS; MALE; MUTATION; NEURONAL CEROID-LIPOFUSCINOSES; PRESENILIN-1; SKIN; UBIQUITIN C;

EID: 84922253345     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/wnl.0000000000000953     Document Type: Note

References (7)

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