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Human Mutation|January 1, 1993
Rapid classification of phenylketonuria genotypes by analysis of heteroduplexes generated by PCR-amplifiable synthetic DNAN Wood, L Tyfield, J BidwellHuman Mutation|January 1, 1995
Homozygous tandem duplication within the gene encoding the beta-subunit of rod phosphodiesterase as a cause for autosomal recessive retinitis pigmentosaM Bayés, M Giordano, S Balcells, et al.Human Mutation|January 1, 1995
Four new adenosine deaminase mutations, altering a zinc-binding histidine, two conserved alanines, and a 5' splice siteI Santisteban, F X Arredondo-Vega, S Kelly, et al.Human Mutation|January 1, 1995
Rapid DNA haplotyping using a multiplex heteroduplex approach: application to Duchenne muscular dystrophy carrier testingT W Prior, G D Wenger, A C Papp, et al.Human Mutation|January 1, 1993
A rapid, efficient, and sensitive assay for simultaneous detection of multiple cystic fibrosis mutationsB Costes, P Fanen, M Goossens, et al.Human Mutation|January 1, 1996
Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and JapanB Zbar, T Kishida, F Chen, et al.Human Mutation|January 1, 1996
A rapid and reliable PCR method for genotyping the ABO blood group. II: A2 and O2 allelesD S O'Keefe, A DobrovicHuman Mutation|January 1, 1997
Mutations in mut methylmalonic acidemia: clinical and enzymatic correlationsF D Ledley, D S RosenblattHuman Mutation|November 9, 2018
Construction of cloning-friendly minigenes for mammalian expression of full-length human NF1 isoformsYan Cui, Helen MorrisonHuman Mutation|October 24, 2018
NR5A1 gene variants repress the ovarian-specific WNT signaling pathway in 46,XX disorders of sex development patientsIngrid M Knarston, Gorjana Robevska, Jocelyn A van den Bergen, et al.Pageof 583