From ventriculomegaly to severe muscular atrophy: Expansion of the clinical spectrum related to mutations in AIFM1
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Molecular Biology,Molecular Medicine
Reference27 articles.
1. A method and server for predicting damaging missense mutations;Adzhubei;Nat. Methods,2010
2. Mitochondrial release of apoptosis-inducing factor occurs downstream of cytochrome c release in response to several proapoptotic stimuli;Arnoult;J. Cell Biol.,2002
3. Early prenatal ventriculomegaly due to an AIFM1 mutation identified by linkage analysis and whole exome sequencing;Berger;Mol. Genet. Metab.,2011
4. Muscle Biopsy;Dubovitz,2007
5. MUSCLE: multiple sequence alignment with high accuracy and high throughput;Edgar;Nucleic Acids Res.,2004
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