RYR1 mutations in UK central core disease patients: more than just the C-terminal transmembrane region of the RYR1 gene

被引：55

作者：

Shepherd, S ^{[1
]}

Ellis, F ^{[1
]}

Halsall, J ^{[1
]}

Hopkins, P ^{[1
]}

Robinson, R ^{[1
]}

机构：

[1] St James Univ Hosp, Acad Unit Anaesthesia, MH Unit, Leeds LS9 7TF, W Yorkshire, England

来源：

JOURNAL OF MEDICAL GENETICS | 2004年 / 41卷 / 03期

关键词：

D O I：

10.1136/jmg.2003.014274

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

[No abstract available]

引用

页数：7

共 49 条

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[8] Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene
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[9] Altered ryanodine receptor function in central core disease:: Leaky or uncoupled Ca2+ release channels?
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[J]. TRENDS IN CARDIOVASCULAR MEDICINE, 2002, 12 (05) : 189 - 197
[10] ELLIS FR, 1984, BRIT J ANAESTH, V56, P1267

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