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Human Mutation|January 1, 1994
Metachromatic leukodystrophy in the Navajo Indian population: a splice site mutation in intron 4 of the arylsulfatase A geneN M Pastor-Soler, M A Rafi, J D Hoffman, et al.
Human Mutation|January 1, 1994
Erroneous assignment of Gaucher disease genotype as a consequence of a complete gene deletionE Beutler, T Gelbart
Human Mutation|January 1, 1994
Characterization of a disease-causing Glu119-Lys mutation in the low-density lipoprotein receptor gene in two Danish families with heterozygous familial hypercholesterolemiaH K Jensen, T G Jensen, L G Jensen, et al.
Human Mutation|January 1, 1994
Genome scanning detects genetic alterations in human ovarian carcinomaA M Magliocco, M H Brilliant
Human Mutation|January 1, 1994
Two coding change mutations in the HIS2(2) allele characterize the salivary histatin 3-2 protein variantL M Sabatini, E A Azen
Human Mutation|January 1, 1994
Scanning method to establish the molecular basis of protein C deficienciesS Gandrille, M Goossens, M Aiach
Human Mutation|January 1, 1994
Detecting prion protein gene mutations by denaturing gradient gel electrophoresisJ K Fink, M L Peacock, J T Warren, et al.
Human Mutation|January 1, 1994
Does cancer kill the individual and save the species?S S Sommer
Human Mutation|September 4, 2022
Long-read HiFi sequencing of NUDT15: Phased full-gene haplotyping and pharmacogenomic allele discoveryErick R Scott, Yao Yang, Mariana R Botton, et al.
Human Mutation|January 1, 1993
Mutational analysis of SRY in XY femalesJ R Hawkins
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