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Human Mutation|January 1, 1996
Relationship between genotype and phenotype in monogenic diseases: relevance to polygenic diseasesK M Summers
Human Mutation|January 1, 1996
CDKN2A (p16INK4A) somatic and germline mutationsB Smith-Sørensen, E Hovig
Human Mutation|January 1, 1996
Characterization of large CTG repeat expansions in myotonic dystrophy alleles using PCRS Cheng, J M Barceló, R G Korneluk
Human Mutation|January 1, 1993
Molecular basis of type I (tyrosinase-related) oculocutaneous albinism: mutations and polymorphisms of the human tyrosinase geneW S Oetting, R A King
Human Mutation|January 1, 1993
Temperature sensitivity of aberrant RNA splicing with a mutation in the G+5 position of intron 37 of the gene for type III procollagen from a patient with Ehlers-Danlos syndrome type IVY Wu, H Kuivaniemi, G Tromp, et al.
Human Mutation|January 1, 1993
Detection of point mutations in the p53 gene: comparison of single-strand conformation polymorphism, constant denaturant gel electrophoresis, and hydroxylamine and osmium tetroxide techniquesA Condie, R Eeles, A L Borresen, et al.
Human Mutation|January 1, 1995
Rapid restriction fragment analysis for screening four point mutations of the low-density lipoprotein receptor gene in French CanadiansM C Vohl, P Couture, S Moorjani, et al.
Human Mutation|January 1, 1996
PKU mutation (D143G) associated with an apparent high residual enzyme activity: expression of a kinetic variant form of phenylalanine hydroxylase in three different systemsP M Knappskog, H G Eiken, A Martínez, et al.
Human Mutation|January 1, 1996
Mucopolysaccharidosis IVA: submicroscopic deletion of 16q24.3 and a novel R386C mutation of N-acetylgalactosamine-6-sulfate sulfatase gene in a classical Morquio diseaseS Fukuda, S Tomatsu, M Masuno, et al.
Human Mutation|January 1, 1996
Mass allele detection (MAD) of rare 5-HT1A structural variants with allele-specific amplification and electrochemiluminescent detectionA Bergen, C Y Wang, B Nakhai, et al.
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