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Human Mutation|May 17, 2005
Determination of variants in the 3'-region of the tyrosinase gene requires locus specific amplificationMoumita Chaki, Arijit Mukhopadhyay, Kunal RayHuman Mutation|May 17, 2005
The phenotypic spectrum of COL2A1 mutationsGen Nishimura, Nobuhiko Haga, Hiroshi Kitoh, et al.Human Mutation|April 22, 2005
A new insight into PMM2 mutations in the French populationChristiane Le Bizec, Sandrine Vuillaumier-Barrot, Anne Barnier, et al.Human Mutation|May 10, 2005
Two ATM variants and breast cancer riskDeborah Thompson, Antonis C Antoniou, Mark Jenkins, et al.Human Mutation|May 10, 2005
High frequency of ENG and ALK1/ACVRL1 mutations in German HHT patientsClaudia Schulte, Urban Geisthoff, Andreas Lux, et al.Human Mutation|December 8, 2004
Phenotology of disease-linked proteinsJeffrey K Myers, Lauren A Beihoffer, Charles R SandersHuman Mutation|October 2, 2004
Mutation analysis of NR0B2 among 1545 Danish men identifies a novel c.278G>A (p.G93D) variant with reduced functional activitySøren M Echwald, Kirstine L Andersen, Thorkild I A Sørensen, et al.Human Mutation|October 2, 2004
Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasiaAkihiko Mabuchi, Nobuhiko Haga, Koichi Maeda, et al.Human Mutation|October 2, 2004
Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone SyndromeAlan F Wright, Adam C Reddick, Sharon B Schwartz, et al.Human Mutation|August 10, 2004
Evidence for mutational cis-acting factors affecting mutagenesis in the ornithine transcarbamylase geneLuísa Azevedo, Consuelo Climent, Laura Vilarinho, et al.Pageof 583