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

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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

W L Greer1, D C Riddell, T L Gillan

  • 1Department of Pathology, Faculty of Medicine, Dalhousie University, Halifax, Nova Scotia. wgreer@IS.Dal.ca

American Journal of Human Genetics
|June 23, 1998
PubMed

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