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

W. L. Greer; D. C. Riddell; T. L. Gillan; G. S. Girouard; S. M. Sparrow; D. M. Byers; M. J. Dobson; P. E. Neumann

doi:10.1086/301931

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

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

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89 Citations (Scopus)

Original language	English
Pages (from-to)	52-54
Number of pages	3
Journal	American Journal of Human Genetics
Volume	63
Issue number	1
DOIs	https://doi.org/10.1086/301931
Publication status	Published - Jul 1998

ASJC Scopus Subject Areas

Genetics
Genetics(clinical)

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10.1086/301931

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

author = "Greer, {W. L.} and Riddell, {D. C.} and Gillan, {T. L.} and Girouard, {G. S.} and Sparrow, {S. M.} and Byers, {D. M.} and Dobson, {M. J.} and Neumann, {P. E.}",

note = "Funding Information: We thank the NPD family members who contributed blood samples, the Yarmouth County Hospital laboratory staff for drawing the blood samples and shipping them to our laboratory, and Karen Cleveland for excellent secretarial assistance. This work has been supported by the Ara Parseghian Medical Research Foundation, the National Niemann-Pick Foundation, and the IWK Grace Health Centre for Children, Women and Families, of Halifax, Nova Scotia. P.E.N. is a Medical Research Council of Canada Scholar. ",

year = "1998",

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AU - Greer, W. L.

AU - Riddell, D. C.

AU - Gillan, T. L.

AU - Girouard, G. S.

AU - Sparrow, S. M.

AU - Byers, D. M.

AU - Dobson, M. J.

AU - Neumann, P. E.

N1 - Funding Information: We thank the NPD family members who contributed blood samples, the Yarmouth County Hospital laboratory staff for drawing the blood samples and shipping them to our laboratory, and Karen Cleveland for excellent secretarial assistance. This work has been supported by the Ara Parseghian Medical Research Foundation, the National Niemann-Pick Foundation, and the IWK Grace Health Centre for Children, Women and Families, of Halifax, Nova Scotia. P.E.N. is a Medical Research Council of Canada Scholar.

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

ASJC Scopus Subject Areas

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