Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
10833814 | Molecular Genetics and Metabolism | 2011 | 4 Pages |
Abstract
⺠Linkage analysis and whole exome sequencing identified a mutation in the AIFM1 gene. ⺠The report of a mutation in the AIFM1 gene, extending the clinical spectrum. ⺠AIFM1 mutation with fetal ventriculomegaly underscores complex I assembly importance. ⺠Linkage analysis followed by exome sequencing is a cost-effective approach. ⺠Especially for identification of mutations in small non-consanguineous families.
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Authors
Itai Berger, Ziva Ben-Neriah, Talia Dor-Wolman, Avraham Shaag, Ann Saada, Shamir Zenvirt, Annick Raas-Rothschild, Michel Nadjari, Klaus H. Kaestner, Orly Elpeleg,