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Human Mutation|February 14, 2006
Vacuolating megalencephalic leukoencephalopathy with subcortical cysts: functional studies of novel variants in MLC1Giorgia Montagna, Oscar Teijido, Eleonore Eymard-Pierre, et al.Human Mutation|February 14, 2006
De novo gene conversion in the RCA gene cluster (1q32) causes mutations in complement factor H associated with atypical hemolytic uremic syndromeStefan Heinen, Pilar Sanchez-Corral, Michael S Jackson, et al.Human Mutation|February 14, 2006
MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts the course of the diseaseManuela Germeshausen, Matthias Ballmaier, Karl WelteHuman Mutation|February 14, 2006
High prevalence of CBS p.T191M mutation in homocystinuric patients from ColombiaMarta Bermúdez, Nina Frank, Jaime Bernal, et al.Human Mutation|February 14, 2006
Characterization and functional investigation of single nucleotide polymorphisms (SNPs) in the human TLR5 geneSabine Merx, Wilma Zimmer, Michael Neumaier, et al.Human Mutation|February 14, 2006
A novel mutation in the GATA4 gene in patients with Tetralogy of FallotGeorges Nemer, Fatimah Fadlalah, Julnar Usta, et al.Human Mutation|February 14, 2006
Functional splicing assay shows a pathogenic intronic mutation in neurofibromatosis type 1 (NF1) due to intronic sequence exonizationM Raponi, M Upadhyaya, D BaralleHuman Mutation|January 19, 2006
RNAi-based suppression and replacement of rds-peripherin in retinal organotypic cultureArpad Palfi, Marius Ader, Anna-Sophia Kiang, et al.Human Mutation|January 19, 2006
PTCH mutations: distribution and analysesErika Lindström, Takashi Shimokawa, Rune Toftgård, et al.Human Mutation|January 24, 2006
DHPLC-based mutation analysis of ENG and ALK-1 genes in HHT Italian populationGennaro M Lenato, Patrizia Lastella, Marilena C Di Giacomo, et al.Pageof 583