异源双工
大疱性表皮松解症
遗传学
生物
突变
聚合酶链反应
基因型
表型
等位基因
分子生物学
基因
外显子
作者
Roslyn Varki,Sara Sadowski,Jouni Uitto,Ellen G Pfendner
标识
DOI:10.1136/jmg.2006.045302
摘要
Examination of the mutation database suggested phenotype-genotype correlations, contributing to the improved subclassification of DEB with prognostic implications. The mutation information also forms the basis for accurate genetic counselling and prenatal diagnosis in families at risk for recurrence.
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