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Human Mutation|May 20, 2003
Single base substitutions at the initiator codon in the mitochondrial acetoacetyl-CoA thiolase (ACAT1/T2) gene result in production of varying amounts of wild-type T2 polypeptideToshiyuki Fukao, Naoki Matsuo, Gai Xiu Zhang, et al.Human Mutation|May 20, 2003
Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutationsUte Spiekerkoetter, Bin Sun, Zaza Khuchua, et al.Human Mutation|May 20, 2003
Molecular detection of novel WFS1 mutations in patients with Wolfram syndrome by a DHPLC-based assayAlessia Colosimo, Valentina Guida, Luciana Rigoli, et al.Human Mutation|May 20, 2003
An ABCA4 genomic deletion in patients with Stargardt diseaseAlexander N Yatsenko, Noah F Shroyer, Richard A Lewis, et al.Human Mutation|May 20, 2003
A multiplex methylation PCR assay for identification of uniparental disomy of chromosome 7Mathew W Moore, Lisa G Dietz, Budi Tirtorahardjo, et al.Human Mutation|June 20, 2003
Determination of SMN1 and SMN2 copy number using TaqMan technologyDirk Anhuf, Thomas Eggermann, Sabine Rudnik-Schöneborn, et al.Human Mutation|June 20, 2003
A specific GFP expression assay, penetrance estimate, and histological assessment for a putative splice site mutation in BRCA1M C Southey, A Tesoriero, M A Young, et al.Human Mutation|June 20, 2003
Comparison of the CFTR mutation spectrum in three cohorts of patients of Celtic origin from Brittany (France) and IrelandVirginie Scotet, David E Barton, James B G Watson, et al.Human Mutation|May 23, 2012
ApiNATOMY: a novel toolkit for visualizing multiscale anatomy schematics with phenotype-related informationBernard de Bono, Pierre Grenon, Stephen John SammutHuman Mutation|May 25, 2012
PRRT2 mutations are the major cause of benign familial infantile seizuresJulian Schubert, Roberta Paravidino, Felicitas Becker, et al.Pageof 583