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Human Mutation|February 22, 2007
Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: lessons from recent developments in the IARC TP53 databaseAudrey Petitjean, Ewy Mathe, Shunsuke Kato, et al.
Human Mutation|February 16, 2007
Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunctionInga Ebermann, Martin Walger, Hendrik P N Scholl, et al.
Human Mutation|March 23, 2007
Heterozygous nonsense mutation SATB2 associated with cleft palate, osteoporosis, and cognitive defectsPetcharat Leoyklang, Kanya Suphapeetiporn, Pichit Siriwan, et al.
Human Mutation|April 3, 2007
Screening for the BRCA1-ins6kbEx13 mutation: potential for misdiagnosis. Mutation in brief #964. OnlineSusan J Ramus, Patricia A Harrington, Carole Pye, et al.
Human Mutation|February 7, 2007
Comprehensive evaluation of allele frequency differences of MC1R variants across populationsMeg R Gerstenblith, Alisa M Goldstein, Maria Concetta Fargnoli, et al.
Human Mutation|February 8, 2007
Impact of the alcohol-dehydrogenase (ADH) 1C and ADH1B polymorphisms on drinking behavior in nonalcoholic JapaneseKeitaro Matsuo, Akio Hiraki, Kaoru Hirose, et al.
Human Mutation|February 8, 2007
Genetic variants in MGMT and risk of lung cancer in Southeastern Chinese: a haplotype-based analysisZhibin Hu, Haifeng Wang, Minhua Shao, et al.
Human Mutation|February 3, 2007
Patterns of variation in DNA segments upstream of transcription start sitesDamian Labuda, Catherine Labbé, Sylvie Langlois, et al.
Human Mutation|February 3, 2007
Signal peptide variants that impair secretion of pancreatic secretory trypsin inhibitor (SPINK1) cause autosomal dominant hereditary pancreatitisOrsolya Király, Arnaud Boulling, Heiko Witt, et al.
Human Mutation|November 2, 2006
Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycansJoan C Marini, Antonella Forlino, Wayne A Cabral, et al.
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