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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.
Human Mutation|March 17, 2004
The west side story: MEFV haplotype in Spanish FMF patients and controls, and evidence of high LD and a recombination "hot-spot" at the MEFV locusAnna Aldea, Francesc Calafell, Juan I Aróstegui, et al.
Human Mutation|January 12, 2005
PolyMAPr: programs for polymorphism database mining, annotation, and functional analysisRobert R Freimuth, Gary D Stormo, Howard L McLeod
Human Mutation|January 12, 2005
A novel mutation in the GUCY2D gene responsible for an early onset severe RP different from the usual GUCY2D-LCA phenotypeIsabelle Perrault, Sylvain Hanein, Sylvie Gerber, et al.
Human Mutation|January 12, 2005
Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut(o) and mut- forms of methylmalonic acidemia: identification of 29 novel mutations in the MUT geneCécile Acquaviva, Jean-François Benoist, Sabrina Pereira, et al.
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