Article ID Journal Published Year Pages File Type
10833814 Molecular Genetics and Metabolism 2011 4 Pages PDF
Abstract
► Linkage analysis and whole exome sequencing identified a mutation in the AIFM1 gene. ► The report of a mutation in the AIFM1 gene, extending the clinical spectrum. ► AIFM1 mutation with fetal ventriculomegaly underscores complex I assembly importance. ► Linkage analysis followed by exome sequencing is a cost-effective approach. ► Especially for identification of mutations in small non-consanguineous families.
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