囊性纤维化的分子诊断
Molecular diagnosis of cystic fibrosis.
作者信息
Shrimpton Antony E
机构信息
SUNY Upstate Medical University, 750E Adams Street, Syracuse, NY 13210, USA.
出版信息
Expert Rev Mol Diagn. 2002 May;2(3):240-56. doi: 10.1586/14737159.2.3.240.
PMID:12050863
Abstract
A review of the current molecular diagnosis of cystic fibrosis including an introduction to cystic fibrosis, the gene function, the phenotypic variation, who should be screened for which mutation, newborn and couple screening, quality assurance, phenotype-genotype correlation, methods and method limitations, options, statements, recommendations, useful Websites and treatments.
摘要
囊性纤维化的当前分子诊断综述，包括囊性纤维化简介、基因功能、表型变异、应针对哪些突变进行筛查、新生儿和夫妇筛查、质量保证、表型 - 基因型相关性、方法及方法局限性、选择、声明、建议、有用的网站和治疗方法。
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