Uniparental disomy of chromosome 1 causing concurrent Charcot-Marie-Tooth and Gaucher disease Type 3.
作者信息
Benko W S, Hruska K S, Nagan N, Goker-Alpan O, Hart P S, Schiffmann R, Sidransky E
机构信息
Metabolic Neurology Branch, NINDS, National Institutes of Health, Bethesda, MD, USA.
出版信息
Neurology. 2008 Mar 18;70(12):976-8. doi: 10.1212/01.wnl.0000305963.37449.32.
Abstract
摘要
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Neurology. 2008 Mar 18;70(12):976-8. doi: 10.1212/01.wnl.0000305963.37449.32.
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本文引用的文献
1
Uniparental disomy (UPD) other than 15: phenotypes and bibliography updated.除15号染色体外的单亲二倍体（UPD）：表型及文献更新
Am J Med Genet A. 2005 Jul 30;136(3):287-305. doi: 10.1002/ajmg.a.30483.
2
The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype.外周髓鞘蛋白零（MPZ）基因中的Thr124Met突变与一种临床特征明显的夏科-马里-图斯（Charcot-Marie-Tooth）表型相关。
Brain. 1999 Feb;122 ( Pt 2):281-90. doi: 10.1093/brain/122.2.281.
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Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies.遗传性周围神经病中周围髓鞘基因及相关基因的突变
Hum Mutat. 1999;13(1):11-28. doi: 10.1002/(SICI)1098-1004(1999)13:1<11::AID-HUMU2>3.0.CO;2-A.
4
Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies.芬兰夏科-马里-图斯病及相关神经病变患者的基因突变谱。
Hum Mutat. 1998;12(1):59-68. doi: 10.1002/(SICI)1098-1004(1998)12:1<59::AID-HUMU9>3.0.CO;2-A.
5
A new genetic concept: uniparental disomy and its potential effect, isodisomy.一个新的遗传学概念：单亲二体及其潜在影响——同二体。
Am J Med Genet. 1980;6(2):137-43. doi: 10.1002/ajmg.1320060207.
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