进行性骨化性纤维发育不良中的父系年龄效应。
Paternal age effect in fibrodysplasia ossificans progressiva.
作者信息
Rogers J G, Chase G A
出版信息
J Med Genet. 1979 Apr;16(2):147-8. doi: 10.1136/jmg.16.2.147.
Abstract
Analysis by the method of Smith (1972) of birth order and parental age data collected from 38 of 42 patients with fibrodysplasia ossificans progressive shows a significant paternal age effect. This finding among the sporadically occurring cases would support the proposition that this condition usually arises as a new dominant mutation.
摘要
采用史密斯（1972年）的方法，对从42例进行性骨化性纤维发育不良患者中的38例收集的出生顺序和父母年龄数据进行分析，结果显示父亲年龄存在显著影响。在散发病例中的这一发现将支持这样一种观点，即这种疾病通常是作为一种新的显性突变出现的。
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本文引用的文献
1
[On the genetics of myositis ossificans progressiva].[关于进行性骨化性肌炎的遗传学]
Humangenetik. 1967;4(4):320-51. doi: 10.1007/BF00285740.
2
Note on the estimation of parental age effects.
Ann Hum Genet. 1972 Mar;35(3):337-42. doi: 10.1111/j.1469-1809.1957.tb01407.x.
3
Older paternal age and fresh gene mutation: data on additional disorders.父亲年龄较大与新的基因突变：关于其他疾病的数据。
J Pediatr. 1975 Jan;86(1):84-8. doi: 10.1016/s0022-3476(75)80709-8.
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