Homozygosity and severity of phenotypic presentation in a CADASIL family

Neurological Sciences

Volumn 35, Issue 1, 2014, Pages 91-93

  Vinciguerra, Claudia ^a   Rufa, Alessandra ^a   Bianchi, Silvia ^a   Sperduto, Antonio ^a   De Santis, Monica ^a   Malandrini, Alessandro ^a   Dotti, Maria Teresa ^a   Federico, Antonio ^a  

^a UNIVERSITY OF SIENA   (Italy)

Author keywords

CADASIL; Early onset; GOMs; Homozygosity

Indexed keywords

APOLIPOPROTEIN E; NOTCH3 RECEPTOR;

ADULT; ALLELE; ARTICLE; CADASIL; CASE REPORT; CEREBROVASCULAR ACCIDENT; DISEASE SEVERITY; EXON; GENE SEQUENCE; HOMOZYGOSITY; HUMAN; MALE; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; AGE OF ONSET; CADASIL; FEMALE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PHENOTYPE; RECEPTORS, NOTCH; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; YOUNG ADULT;

EID: 84892670289     PISSN: 15901874     EISSN: 15903478     Source Type: Journal    
DOI: 10.1007/s10072-013-1580-9     Document Type: Article

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