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Human Mutation|January 1, 1995
Mutations in the Norrie disease geneD E Schuback, Z Y Chen, I W Craig, et al.Human Mutation|January 1, 1995
Mutations and polymorphisms in the human ornithine transcarbamylase gene: mutation update addendumM Tuchman, R J PlanteHuman Mutation|January 1, 1995
Characterization of germline mutations of the gene encoding Bruton's tyrosine kinase in families with X-linked agammaglobulinemiaT L Hagemann, F S Rosen, S P KwanHuman Mutation|January 1, 1995
African, Native American, and European mitochondrial DNAs in Cubans from Pinar del Rio Province and implications for the recent epidemic neuropathy in Cuba. Cuba Neuropathy Field Investigation TeamA Torroni, M D Brown, M T Lott, et al.Human Mutation|April 12, 2011
Prediction of missense mutation functionality depends on both the algorithm and sequence alignment employedStephanie Hicks, David A Wheeler, Sharon E Plon, et al.Human Mutation|January 1, 1997
Mutations and polymorphisms in the tuberous sclerosis complex gene on chromosome 16K S Au, J A Rodriguez, E Rodriguez, et al.Human Mutation|January 1, 1997
Identification of common polymorphisms in the coding sequence of the human MSH receptor (MCIR) with possible biological effectsS V Koppula, L S Robbins, D Lu, et al.Human Mutation|January 1, 1997
Mutations and DNA diagnoses of classical citrullinemiaH Kakinoki, K Kobayashi, H Terazono, et al.Human Mutation|January 1, 1997
Novel HEXA mutation in a Bedouin Tay-Sachs patient associated with exon skipping and reduced transcript levelL Drucker, A Golan, D J Boles, et al.Human Mutation|January 1, 1997
delta-Thalassemic phenotype due to two "novel" delta-globin gene mutations: CD11[GTC-->GGC (A8)-HbA2-Pylos] and CD 85[TTT-->TCT(F1)-HbA2-Etolia]O Drakoulakou, E Papapanagiotou, A Loutradi-Anagnostou, et al.Pageof 583