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Human Mutation|July 4, 2019
Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiencyElsayed Abdelkreem, Rajesh K Harijan, Seiji Yamaguchi, et al.
Human Mutation|July 4, 2019
Functional and cellular localization diversity associated with Fukutin-related protein patient genetic variantsSara F Henriques, Evelyne Gicquel, Justine Marsolier, et al.
Human Mutation|May 3, 2019
Biallelic variants in DNA2 cause microcephalic primordial dwarfismŽygimantė Tarnauskaitė, Louise S Bicknell, Joseph A Marsh, et al.
Human Mutation|May 7, 2019
Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 geneJulia Felden, Britta Baumann, Manir Ali, et al.
Human Mutation|March 25, 1999
A novel heteroplasmic point mutation in the mitochondrial tRNA(Lys) gene in a sporadic case of mitochondrial encephalomyopathy: de novo mutation and no transmission to the offspringM Houshmand, C Lindberg, A R Moslemi, et al.
Human Mutation|March 25, 1999
Novel mutations associated with carnitine palmitoyltransferase II deficiencyR T Taggart, D Smail, C Apolito, et al.
Human Mutation|March 25, 1999
Reported in vivo splice-site mutations in the factor IX gene: severity of splicing defects and a hypothesis for predicting deleterious splice donor mutationsR P Ketterling, J B Drost, W A Scaringe, et al.
Human Mutation|March 25, 1999
Mutation screening of neurofibromatosis type 1 (NF1) exons 28 and 29 with single strand conformation polymorphism (SSCP): five novel mutations, one recurrent transition and two polymorphisms in a panel of 118 unrelated NF1 patients. Mutations in brief no. 229. OnlineH Peters, A Lüder, A Harder, et al.
Human Mutation|March 27, 1999
Detection of mutations in COL4A5 in patients with Alport syndromeK E Plant, P M Green, D Vetrie, et al.
Human Mutation|March 27, 1999
Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneityA R Janecke, M Meins, M Sadeghi, et al.
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