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Human Mutation|January 1, 1992
Frequency and distribution of phenylketonuric mutations in OrientalsY Okano, Y Hase, D H Lee, et al.Human Mutation|January 1, 1992
A comprehensive scanning method for rapid detection of beta-globin gene mutations and polymorphismsN Ghanem, E Girodon, M Vidaud, et al.Human Mutation|January 1, 1992
Replication errors may contribute to the generation of large deletions and duplications in the dystrophin geneK Baldrich, M Baldrich, A P Monaco, et al.Human Mutation|January 1, 1992
Molecular basis of hexosaminidase A deficiency and pseudodeficiency in the Berks County Pennsylvania DutchE H Mules, S Hayflick, C E Dowling, et al.Human Mutation|January 1, 1992
A mutation common in non-Jewish Tay-Sachs disease: frequency and RNA studiesB R Akerman, J Zielenski, B L Triggs-Raine, et al.Human Mutation|January 1, 1992
alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotypeH S Scott, T Litjens, P V Nelson, et al.Human Mutation|January 1, 1992
A defective splice site at the phenylalanine hydroxylase gene in phenylketonuria and benign hyperphenylalaninemia among Palestinian ArabsS Kleiman, J Bernstein, G Schwartz, et al.Human Mutation|January 1, 1992
An N-acetylgalactosamine-4-sulfatase mutation (delta G238) results in a severe Maroteaux-Lamy phenotypeT Litjens, C P Morris, E F Robertson, et al.Human Mutation|January 1, 1992
Detection of sequence variants in the gene for human type II procollagen (COL2A1) by direct sequencing of polymerase chain reaction-amplified genomic DNAC J Williams, D A Harrison, I Hopkinson, et al.Pageof 583