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Genomics|February 1, 1992
Structural organization and complete nucleotide sequence of the gene encoding human acid sphingomyelinase (SMPD1)E H Schuchman, O Levran, L V Pereira, et al.
American Journal of Human Genetics|October 1, 1991
Molecular characterization of the human delta-aminolevulinate dehydratase 2 (ALAD2) allele: implications for molecular screening of individuals for genetic susceptibility to lead poisoningJ G Wetmur, A H Kaya, M Plewinska, et al.
Progress in Clinical and Biological Research|January 1, 1982
Genetic heterogeneity in type I Gaucher diseaseE A Devine, P Beighton, E M Petersen, et al.
Proceedings of the National Academy of Sciences of the United States of America|October 1, 1986
Human delta-aminolevulinate dehydratase: nucleotide sequence of a full-length cDNA cloneJ G Wetmur, D F Bishop, C Cantelmo, et al.
American Journal of Medical Genetics|August 22, 1997
Fabry disease: molecular carrier detection and prenatal diagnosis by analysis of closely linked polymorphisms at Xq22.1M Caggana, G A Ashley, R J Desnick, et al.
Enzyme|January 1, 1984
Human alpha-L-iduronidase. II. Comparative biochemical and immunologic properties of the purified low and high uptake formsE H Schuchman, N A Guzman, G Takada, et al.
The Journal of Clinical Investigation|August 1, 1985
Acute intermittent porphyria: characterization of a novel mutation in the structural gene for porphobilinogen deaminase. Demonstration of noncatalytic enzyme intermediates stabilized by bound substrateR J Desnick, L T Ostasiewicz, P A Tishler, et al.
Gene|January 1, 1986
Molecular cloning of a cDNA for human delta-aminolevulinate dehydrataseJ G Wetmur, D F Bishop, L Ostasiewicz, et al.
Prenatal Diagnosis|April 1, 1996
Molecular prenatal diagnosis of glycogen storage disease type IaY Qu, J E Abdenur, C M Eng, et al.
Prenatal Diagnosis|September 22, 1998
Prenatal diagnosis and outcome of mosaicism for a de novo unbalanced translocation identified in amniocytesP D Cotter, A Babu, J P Willner, et al.
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