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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