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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科研成果: 期刊稿件 › 文章 › 同行评审

89 引用（Scopus）

源语言	英语
页（从-至）	52-54
页数	3
期刊	American Journal of Human Genetics
卷	63
期	1
DOI	https://doi.org/10.1086/301931
出版状态	已出版 - 7月 1998

!!!ASJC Scopus Subject Areas

遗传学
遗传学（临床）

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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. ",

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