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Human Mutation|January 1, 1992
A new intragenic polymorphism detected by the single-strand conformation polymorphism (SSCP) assay in the dystrophin geneS Tuffery, J Demaille, M ClaustressHuman Mutation|January 1, 1992
A splice junction mutation in intron 2 of the carbonic anhydrase II gene of osteopetrosis patients from Arabic countriesP Y Hu, D E Roth, L A Skaggs, et al.Human Mutation|January 1, 1992
Human hepatic lipase mutations and polymorphismsR A Hegele, L Tu, P W ConnellyHuman Mutation|January 1, 1992
Screening for new mutations in the LDL receptor gene in seven French familial hypercholesterolemia families by the single strand conformation polymorphism methodN Loux, B Saint-Jore, G Collod, et al.Human Mutation|January 1, 1992
A de novo phenylketonuria mutation: ATG (Met) to ATA (Ile) in the start codon of the phenylalanine hydroxylase geneH G Eiken, P M Knappskog, J Apold, et al.Human Mutation|January 1, 1992
Protein C deficiency: identification of a novel two-base pair insertion and two point mutations in exon 7 of the protein C gene in Spanish familiesJ M Soria, J Fontcuberta, M Borrell, et al.Human Mutation|January 1, 1992
Prevalence of cystic fibrosis mutations in the East German populationC Coutelle, R Brückner, K Grade, et al.Human Mutation|January 1, 1992
Illegitimate transcription of phenylalanine hydroxylase for detection of mutations in patients with phenylketonuriaS J Ramus, S M Forrest, R G CottonHuman Mutation|July 20, 2001
Missense polymorphism in the human carboxypeptidase E gene alters enzymatic activityH Chen, S Jawahar, Y Qian, et al.Human Mutation|July 20, 2001
Detection of germline mutations in the BRCA1 gene by RNA-based sequencingA Jakubowska, B Górski, T Byrski, et al.Pageof 583