S M Hoffman
Affiliation: Miami University
- JAK3 maps to human chromosome 19p12 within a cluster of proto-oncogenes and transcription factorsS M Hoffman
Human Genome Center, Lawrence Livermore National Laboratory, Livermore, California 94550, USA
Genomics 43:109-11. 1997
- Complex beta-satellite repeat structures and the expansion of the zinc finger gene cluster in 19p12E E Eichler
Human Genome Center, BBRP, L 452, Lawrence Livermore National Laboratory, Livermore, California 94550, USA
Genome Res 8:791-808. 1998..The sequence data described in this paper have been submitted to GenBank under accession nos. AC003973 and AC004004.]..
- A genetic polymorphism in coumarin 7-hydroxylation: sequence of the human CYP2A genes and identification of variant CYP2A6 allelesP Fernandez-Salguero
National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA
Am J Hum Genet 57:651-60. 1995..The allelic frequencies of CYP2A6v1 and CYP2A6v2 differed significantly between Caucasian, Asian, and African-American populations. These studies establish the existence of a new cytochrome P450 genetic polymorphism...
- Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein geneM D Briggs
Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, Cedars Sinai Research Institute, Los Angeles, California 90048, USA
Nat Genet 10:330-6. 1995..Our data demonstrate that PSACH and some forms of MED are allelic and suggest an essential role for Ca++ binding in COMP structure and function...
- Organization and evolution of the cytochrome P450 CYP2A-2B-2F subfamily gene cluster on human chromosome 19S M Hoffman
Human Genome Center, Lawrence Livermore National Laboratory, CA 94551, USA
J Mol Evol 41:894-900. 1995..The identification of all genes and pseudogenes in this cluster also makes it possible to determine the origins of some previously known variant P450 transcripts...
- Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4R A Ophoff
MGC Department of Human Genetics, Sylvius Laboratory, Leiden University, The Netherlands
Cell 87:543-52. 1996..In EA-2, we found two mutations disrupting the reading frame. Thus, FHM and EA-2 can be considered as allelic channelopathies. A similar etiology may be involved in common types of migraine...