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Human Mutation|July 23, 2003
Mutations and polymorphisms in the human methyl CpG-binding protein MECP2Gabriel Miltenberger-Miltenyi, Franco LacconeHuman Mutation|July 23, 2003
Gross rearrangements in the MECP2 gene in three patients with Rett syndrome: implications for routine diagnosis of Rett syndromeE Schollen, E Smeets, E Deflem, et al.Human Mutation|July 23, 2003
A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 geneIvon Cuscó, Eva López, Carolina Soler-Botija, et al.Human Mutation|July 23, 2003
Detection of single nucleotide substitution by competitive allele-specific short oligonucleotide hybridization (CASSOH) with immunochromatographic stripYoichi Matsubara, Shigeo KureHuman Mutation|August 26, 2003
Translocation and gross deletion breakpoints in human inherited disease and cancer II: Potential involvement of repetitive sequence elements in secondary structure formation between DNA endsNadia Chuzhanova, Shaun S Abeysinghe, Michael Krawczak, et al.Human Mutation|August 26, 2003
Association analysis of novel TBX21 variants with asthma phenotypesHun Taek Chung, Lyoung Hyo Kim, Byung Lae Park, et al.Human Mutation|September 5, 2003
Approaches to identify genes for complex human diseases: lessons from Mendelian disordersMichael DeanHuman Mutation|September 5, 2003
Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effectsOrland Díez, Ana Osorio, Mercedes Durán, et al.Human Mutation|September 5, 2003
Mutation spectrum of human SLC39A4 in a panel of patients with acrodermatitis enteropathicaSébastien Küry, Monia Kharfi, Ridha Kamoun, et al.Human Mutation|September 5, 2003
CFTR genotypes in patients with normal or borderline sweat chloride levelsDelphine Feldmann, Remy Couderc, Marie-Pierre Audrezet, et al.Pageof 583