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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.

DOI:10.1136/jmg.2004.020701
PMID:15466003
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1735594/
Abstract
摘要

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POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease.肌肉-眼-脑疾病中的POMGnT1突变及表型谱
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