Variant late-infantile neuronal ceroid lipofuscinosis due to a novel heterozygous CLN8 mutation and de novo 8p23.3 deletion

被引：20

作者：

Allen, N. M. ^{[1
]}

O'hIci, B. ^{[2
]}

Anderson, G. ^{[3
]}

Nestor, T. ^{[1
]}

Lynch, S. Ann ^{[2
]}

King, M. D. ^{[1
]}

机构：

[1] Childrens Univ Hosp, Dept Pediat Neurol & Clin Neurophysiol, Dublin 1, Ireland

[2] Our Ladys Childrens Hosp, Natl Ctr Med Genet, Dublin 12, Ireland

[3] Great Ormond St Hosp Sick Children, Dept Histopathol, London WC1N 3JH, England

来源：

CLINICAL GENETICS | 2012年 / 81卷 / 06期

关键词：

D O I：

10.1111/j.1399-0004.2011.01777.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：602 / 604

页数：3

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