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Human Mutation|April 3, 2007
Allelic heterogeneity of molecular events in human coagulation factor IX in Asian Indians. Mutation in brief #965. OnlineAnubha Mahajan, Sreenivas Chavali, Saurabh Ghosh, et al.
Human Mutation|February 28, 2007
Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogeneEva Trevisson, Leonardo Salviati, Maria Cristina Baldoin, et al.
Human Mutation|December 8, 2006
Identification and computationally-based structural interpretation of naturally occurring variants of human protein CErmanna Rovida, Giuliana Merati, Pasqualina D'Ursi, et al.
Human Mutation|July 13, 2006
Paternal bias in parental origin of HRAS mutations in Costello syndromeKatia Sol-Church, Deborah L Stabley, Linda Nicholson, et al.
Human Mutation|July 13, 2006
Identification of forty-five novel and twenty-three known NF1 mutations in Chinese patients with neurofibromatosis type 1Ming-Jen Lee, Yi-Ning Su, Huey-Ling You, et al.
Human Mutation|July 13, 2006
Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermiaLucia Galli, Alfredo Orrico, Stefania Lorenzini, et al.
Human Mutation|July 13, 2006
Missense mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTA) in a patient with mucolipidosis II induces changes in the size and cellular distribution of GNPTGStephan Tiede, Michael Cantz, Jürgen Spranger, et al.
Human Mutation|January 16, 2007
MID1 mutation screening in a large cohort of Opitz G/BBB syndrome patients: twenty-nine novel mutations identifiedRosa Ferrentino, Maria Teresa Bassi, David Chitayat, et al.
Human Mutation|January 16, 2007
Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortiumArjan P M de Brouwer, Helger G Yntema, Tjitske Kleefstra, et al.
Human Mutation|January 16, 2007
GM1 gangliosidosis: molecular analysis of nine patients and development of an RT-PCR assay for GLB1 gene expression profilingAnna Caciotti, Maria Alice Donati, Elena Procopio, et al.
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