Individuals with Prader-Willi Syndrome and Their Perceptions of Skin-Picking Behaviour
Individuals with Prader-Willi Syndrome and Their Perceptions of Skin-Picking Behaviour
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普瑞德威利综合症患者及其对皮肤采摘行为的看法
DOI：
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发表时间：
2008
期刊：
影响因子：
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通讯作者：
L. Curfs
中科院分区：
文献类型：
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作者：
R. Didden;I. Proot;G. Lancioni;Rianne van Os;L. Curfs
Prader-Willi综合征（PWS）是一种遗传性疾病，与遗传位点15 q11 -13处尚未鉴定的母系印记基因的父系拷贝表达异常或缺失相关。涉及三种基因亚型。两种主要的遗传亚型是在基因座15 q11 -13处具有缺失的那些，涉及父系缺失的15号染色体（缺失15遗传亚型;约70%的病例），以及具有母系15号染色体单亲二体的那些（二体15遗传亚型
Prader-Willi syndrome (PWS) is a genetic disorder associated with abnormal or absent expression of the paternal copy of as yet unidentified maternally imprinted gene(s) at the genetic locus 15q11-13. Three genetic subtypes are involved. The two main genetic subtypes are those with a deletion at the locus 15q11-13, involving chromosome 15 of paternal deletion (deletion 15 genetic subtype; approximately 70% of cases), and those with maternal chromosome 15 uniparental disomy (disomy 15 genetic
通过竞争活动减少皮肤抓伤。
影响因子：
2.9
作者：
Lane,KathleenLynne;Thompson,Ada;Reske,CaraL;Gable,LaurenM;Barton-Arwood,Sally
通讯作者：
Barton-Arwood,Sally