Population Carrier Screening for Spinal Muscular Atrophy A Position Statement of the Association for Molecular Pathology
Population Carrier Screening for Spinal Muscular Atrophy A Position Statement of the Association for Molecular Pathology
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DOI：
10.1016/j.jmoldx.2010.11.012
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发表时间：
2011-01-01
影响因子：
4.1
通讯作者：
Schrijver, Iris
中科院分区：
文献类型：
--
作者：
Muralidharan, Kasinathan;Wilson, Robert B.;Schrijver, Iris
脊髓性肌萎缩症是一种常见的十种致命性常染色体隐性遗传疾病，可对其进行携带者筛查。分子病理学协会评估了有关人口携带者筛查的最新观点，回顾了当前文献，并制定了一份立场声明，其中包括针对影响实施的诊断和实际问题的具体建议。 (J Mol Diagn 2011, 13: 3-6; DOI: 10.1016/j.jmoldx.2010.11.012)
Spinal muscular atrophy is a common and of ten fatal autosomal recessive disorder for which carrier screening is available. The Association for Molecular Pathology has evaluated recent opinions regarding population carrier screening, reviewed the current literature, and developed a position statement that includes specific recommendations addressing both diagnostic and;practical issues that affect implementation. (J Mol Diagn 2011, 13: 3-6; DOI: 10.1016/j.jmoldx.2010.11.012)