利用正常女儿和姐妹的肌酸激酶水平估计杜兴氏肌营养不良症的杂合性。
Use of normal daughters' and sisters' creatine kinase levels in estimating heterozygosity in Duchenne muscular dystrophy.
作者信息
Emery A E, Holloway S
出版信息
Hum Hered. 1977;27(2):118-26. doi: 10.1159/000152860.
PMID:863458
Abstract
A modification is given of the original density function formula of EMERY and MORTON for estimating heterozygosity in X-linked Duchenne muscular dystrophy. This modification takes into account SCK levels in both normal sisters and normal daughters of a suspected carrier in families where there is only one affected male.
摘要
对埃默里和莫顿用于估计X连锁杜兴氏肌营养不良症杂合性的原始密度函数公式进行了修正。该修正考虑了在仅有一名患病男性的家庭中，疑似携带者的正常姐妹和正常女儿的血清肌酸激酶（SCK）水平。
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