新斯科舍省尼曼-匹克病（D型）的遗传和人口统计学方面。
Genetic and demographic aspects of Nova Scotia Niemann-Pick disease (type D).
作者信息
Winsor E J, Welch J P
出版信息
Am J Hum Genet. 1978 Sep;30(5):530-8.
Abstract
All known cases of Nova Scotia Niemann-Pick Disease (type D) were traced to a couple born in Nova Scotia in the late 1600s. It is speculated that this disease is the result of a single mutation in one of the ancestors of Yarmouth County French Acadians. In the district where most affected children lived, the heterozygote frequency was estimated to be between 10% and 26%.
摘要
所有已知的新斯科舍尼曼-匹克病（D型）病例都可追溯到17世纪末出生在新斯科舍的一对夫妇。据推测，这种疾病是雅茅斯县法裔阿卡迪亚人一位祖先发生单一突变的结果。在大多数患病儿童居住的地区，杂合子频率估计在10%至26%之间。
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本文引用的文献
1
Fortran Programs for Computing Wright's Coefficient of Inbreeding in Human and Nonhuman Pedigrees.用于计算人类和非人类谱系中赖特近亲繁殖系数的Fortran程序。
Am J Hum Genet. 1964 Dec;16(4):484.
2
THE DISTRIBUTION OF CERTAIN GENES IN THE OLD ORDER AMISH.
Cold Spring Harb Symp Quant Biol. 1964;29:99-114. doi: 10.1101/sqb.1964.029.01.015.
3
The cerebral defect in Tay-Sachs disease and Niemann-Pick disease.泰-萨克斯病和尼曼-匹克病中的脑缺陷。
J Neurochem. 1961 Apr;7:69-80. doi: 10.1111/j.1471-4159.1961.tb13499.x.
4
Niemann-Pick disease: a review of eighteen patients.尼曼-匹克病：18例患者的综述
Medicine (Baltimore). 1958 Feb;37(1):1-95. doi: 10.1097/00005792-195802000-00001.
5
Genetic aspects of tyrosinemia in the Chicoutimi region.希库蒂米地区酪氨酸血症的遗传学方面
Can Med Assoc J. 1967 Oct 28;97(18):1099-101.
6
The subacute form of Niemann-Pick disease.
Arch Neurol. 1967 Sep;17(3):230-7. doi: 10.1001/archneur.1967.00470270008002.
7
Niemann-Pick's disease manifesting as schizophrenia.
Dis Nerv Syst. 1967 Mar;28(3):194.
8
The juvenile form of Niemann-Pick disease.尼曼-匹克病的青少年型
Arch Dis Child. 1967 Feb;42(221):91-6. doi: 10.1136/adc.42.221.91.
9
[Contribution to the study of spleen sphingomyelin in a case of Niemann-Pick's disease].
J Neurochem. 1966 Sep;13(9):879-83. doi: 10.1111/j.1471-4159.1966.tb05884.x.
10
Niemann-Pick disease. Morphologic and biochemical studies in the visceral form with late central nervous system involvement (Crocker's group C).尼曼-匹克病。内脏型伴晚期中枢神经系统受累（克罗克C组）的形态学和生化研究
Arch Neurol. 1969 Mar;20(3):227-38. doi: 10.1001/archneur.1969.00480090015001.
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