POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease.
作者信息
Diesen C, Saarinen A, Pihko H, Rosenlew C, Cormand B, Dobyns W B, Dieguez J, Valanne L, Joensuu T, Lehesjoki A-E
出版信息
J Med Genet. 2004 Oct;41(10):e115. doi: 10.1136/jmg.2004.020701.
Abstract
摘要
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