Human Mutation

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  Publication Venue For

  • Genetic evidence and integration of various data sources for classifying uncertain variants into a single model..  29:1265-1272. 2008
  • Mutational analysis of ATP7B and genotype–phenotype correlation in Japanese with Wilson's disease.  15:454-454. 2000
  • Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease..  15:454-462. 2000
  • Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles..  11:286-294. 1998
  • Novel missense and frameshift mutations in the activin receptor-like kinase-1 gene in hereditary hemorrhagic telangiectasia. Mutations in brief no. 164. Online..  12:137. 1998
  • Seven novel mutations in the adenosine deaminase (ADA) gene in patients with severe and delayed onset combined immunodeficiency: G74C, V129M, G140E, R149W, Q199P, 462delG, and E337del. Mutations in brief no. 142. Online..  11:482. 1998
  • A nonsense mutation due to a single base insertion in the 3'-coding region of glycogen debranching enzyme gene associated with a severe phenotype in a patient with glycogen storage disease type IIIa..  9:37-40. 1997
  • A novel splice site mutation (156 + 1G-->A) in the TSC2 gene..  9:64-65. 1997
  • Mutations in purine nucleoside phosphorylase deficiency..  9:118-121. 1997
  • Four new adenosine deaminase mutations, altering a zinc-binding histidine, two conserved alanines, and a 5' splice site..  5:243-250. 1995
  • PEG-ADA: an alternative to haploidentical bone marrow transplantation and an adjunct to gene therapy for adenosine deaminase deficiency..  5:107-112. 1995
  • Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene..  1:271-279. 1992