The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097→T transversion in NPC1

American Journal of Human Genetics

Volumn 63, Issue 1, 1998, Pages 52-54

  Greer, W L ^a,c   Riddell, D C ^a   Gillan, T L ^a   Girouard, G S ^a   Sparrow, S M ^a   Byers, D M ^a   Dobson, M J ^a   Neumann, P E ^a,b  

^a DALHOUSIE UNIVERSITY   (Canada)

^b DALHOUSIE UNIVERSITY   (Canada)

^c QUEEN ELIZABETH II HEALTH SCIENCES CENTRE   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

CHOLESTEROL; SPHINGOMYELIN;

ARTICLE; CLINICAL ARTICLE; DISEASE CLASSIFICATION; GENE ISOLATION; GENE LINKAGE DISEQUILIBRIUM; GENETIC LINKAGE; HUMAN; HUMAN CELL; HUMAN TISSUE; NIEMANN PICK DISEASE; POINT MUTATION; PRIORITY JOURNAL;

EID: 0032231442     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301931     Document Type: Article

References (15)

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