Concepedia

Rare Missense and Synonymous Variants in UBE1 Are Associated with X-Linked Infantile Spinal Muscular Atrophy

Juliane Ramser, Mary Ellen Ahearn, C Lenski, Kemal O. Yariz, Heide Hellebrand, Michael von Rhein, Robin D. Clark, Rita K. Schmutzler, Peter Lichtner, Eric P. Hoffman,

The American Journal of Human Genetics · 2008 · 185 citations · 13 references

Open access

Concepts

Life SciencesGeneticsMolecular GeneticsHuman GeneticsMedical GeneticsNeurogeneticsGenetic DisordersSpinal Muscular AtrophyInfantile Spinal Muscular AtrophyMissense Variant InterpretationPediatric Spinal Muscular AtrophySynonymous MutationsSynonymous SubstitutionX-linked Neurodegenerative DisordersX-linked Neurodevelopmental Disorders

References

13

DNA Methyltransferases Dnmt3a and Dnmt3b Are Essential for De Novo Methylation and Mammalian Development

Masaki Okano, Daphne W. Bell, Daniel A. Haber et al. · Cell · 1999 · 6.1K citations · Full text

Life Sciences, Molecular Biology, Molecular Genetics +15

The Role of DNA Methylation in Mammalian Epigenetics

Peter A. Jones, Daiya Takai · Science · 2001 · 2.1K citations

Medicine, Genetics, Molecular Genetics +15

ESEfinder: a web resource to identify exonic splicing enhancers

Luca Cartegni · Nucleic Acids Research · 2003 · 1.6K citations · Full text

Life Sciences, Genetics, Molecular Biology +14

The Protein CTCF Is Required for the Enhancer Blocking Activity of Vertebrate Insulators

Adam C. Bell, Adam G. West, Gary Felsenfeld · Cell · 1999 · 1.1K citations · Full text

Life Sciences, Genetics, Molecular Biology +15

Most Rare Missense Alleles Are Deleterious in Humans: Implications for Complex Disease and Association Studies

Gregory V. Kryukov, L Pennacchio, Shamil Sunyaev · The American Journal of Human Genetics · 2007 · 607 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14