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Human Mutation|April 23, 2008
Reduced half-life of holocarboxylase synthetase from patients with severe multiple carboxylase deficiencyLisa M Bailey, Ruby A Ivanov, Sarawut Jitrapakdee, et al.
Human Mutation|April 23, 2008
Haplotype analysis suggests a single Balkan origin for the Gaucher disease [D409H;H255Q] double mutant alleleRaül Santamaria, Helen Michelakakis, Marina Moraitou, et al.
Human Mutation|April 15, 2008
The infevers autoinflammatory mutation online registry: update with new genes and functionsFlorian Milhavet, Laurence Cuisset, Hal M Hoffman, et al.
Human Mutation|May 14, 2008
Rapid detection of methylation change at H19 in human imprinting disorders using methylation-sensitive high-resolution meltingTomasz K Wojdacz, Alexander Dobrovic, Elizabeth M Algar
Human Mutation|May 14, 2008
Investigation of citrullinemia type I variants by in vitro expression studiesChristoph Berning, Iris Bieger, Silke Pauli, et al.
Human Mutation|May 14, 2008
An unusual haplotype structure on human chromosome 8p23 derived from the inversion polymorphismLibin Deng, Yuezheng Zhang, Jian Kang, et al.
Human Mutation|March 19, 2008
High-throughput amplicon scanning of the TP53 gene in breast cancer using high-resolution fluorescent melting curve analyses and automatic mutation callingRoy Bastien, Tracey B Lewis, Jason E Hawkes, et al.
Human Mutation|March 19, 2008
Integrated DNA, cDNA, and protein studies in Becker muscular dystrophy show high exception to the reading frame ruleAkanchha Kesari, Laura N Pirra, Lakshmi Bremadesam, et al.
Human Mutation|March 20, 2008
Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutationsFrancesca Fusco, Alessandra Pescatore, Elodie Bal, et al.
Human Mutation|May 13, 2008
Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophyJennifer Boyle, Takahiro Ueda, Kyu-Seon Oh, et al.
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