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Human Mutation|August 25, 2009
The APC Variant p.Glu1317Gln predisposes to colorectal adenomas by a novel mechanism of relaxing the target for tumorigenic somatic APC mutationsAnthony R Dallosso, Siân Jones, Duncan Azzopardi, et al.
Human Mutation|August 6, 2009
Mutation within TARDBP leads to frontotemporal dementia without motor neuron diseaseB Borroni, C Bonvicini, A Alberici, et al.
Human Mutation|July 21, 2009
Functional FEN1 polymorphisms are associated with DNA damage levels and lung cancer riskMing Yang, Huan Guo, Chen Wu, et al.
Human Mutation|July 22, 2009
Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B genePaola Bianchi, Elisa Fermo, Cristina Vercellati, et al.
Human Mutation|August 18, 2009
Closely spaced multiple mutations as potential signatures of transient hypermutability in human genesJian-Min Chen, Claude Férec, David N Cooper
Human Mutation|July 17, 2009
The genetic basis of Brugada syndrome: a mutation updatePaula L Hedley, Poul Jørgensen, Sarah Schlamowitz, et al.
Human Mutation|July 17, 2009
A survey of ABCA1 sequence variation confirms association with dementiaChandra A Reynolds, Mun-Gwan Hong, Ulrika K Eriksson, et al.
Human Mutation|July 16, 2009
Microdeletion/duplication at the Xq28 IP locus causes a de novo IKBKG/NEMO/IKKgamma exon4_10 deletion in families with Incontinentia PigmentiFrancesca Fusco, Mariateresa Paciolla, Alessandra Pescatore, et al.
Human Mutation|October 6, 2009
A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) geneDerek H K Lim, Pauline K Rehal, Michael S Nahorski, et al.
Human Mutation|September 18, 2009
Novel missense mutations in the FOXC2 gene alter transcriptional activityM A M van Steensel, R J Damstra, M V Heitink, et al.
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