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Human Mutation|April 27, 2004
Approaches for analyzing human mutations and nucleotide sequence variation: a report from the Seventh International Mutation Detection meeting, 2003Ann-Christine Syvänen, Graham R Taylor
Human Mutation|April 27, 2004
An activated 5' cryptic splice site in the human ALG3 gene generates a premature termination codon insensitive to nonsense-mediated mRNA decay in a new case of congenital disorder of glycosylation type Id (CDG-Id)Jonas Denecke, Christian Kranz, Dirk Kemming, et al.
Human Mutation|April 27, 2004
Genetic characterization of myeloperoxidase deficiency in ItalyCaterina Marchetti, Pierluigi Patriarca, G Pietro Solero, et al.
Human Mutation|April 27, 2004
A novel splice-site mutation in the common gamma chain (gammac) gene IL2RG results in X-linked severe combined immunodeficiency with an atypical NK+ phenotypeSamantha L Ginn, Christine Smyth, Melanie Wong, et al.
Human Mutation|April 27, 2004
First genotype characterization of Argentinean FAP patients: identification of 14 novel APC mutationsMarina De Rosa, Ricardo J Dourisboure, Gemma Morelli, et al.
Human Mutation|April 27, 2004
Loss-of-function mutations in cathepsin C in two families with Papillon-Lefèvre syndrome are associated with deficiency of serine proteinases in PMNsSusanne F de Haar, D C Jansen, Ton Schoenmaker, et al.
Human Mutation|April 27, 2004
Detection of Parkin (PARK2) and DJ1 (PARK7) mutations in early-onset Parkinson disease: Parkin mutation frequency depends on ethnic origin of patientsAna Djarmati, Katja Hedrich, Marina Svetel, et al.
Human Mutation|March 17, 2004
Rapid detection of subtelomeric deletion/duplication by novel real-time quantitative PCR using SYBR-green dyeDetlef Boehm, Sabine Herold, Alma Kuechler, et al.
Human Mutation|March 17, 2004
Rapid identification of female carriers of DMD/BMD by quantitative real-time PCRFranziska Joncourt, Barbara Neuhaus, Kristin Jostarndt-Foegen, et al.
Human Mutation|March 17, 2004
Molecular analysis of the APC and MYH genes in Czech families affected by FAP or multiple adenomas: 13 novel mutationsJ Vandrovcová, J Stekrová, V Kebrdlová, et al.
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