D J Wilkin
Affiliation: National Institutes of Health
- Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosomeD J Wilkin
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
Am J Hum Genet 63:711-6. 1998....
- Bone dysplasias in man: molecular insightsC A Francomano
Medical Genetics Branch, National Center for Human Genome Research, National Institutes of Health, Bethesda, Maryland 20892, USA
Curr Opin Genet Dev 6:301-8. 1996..The recognition of these phenomena has initiated the analysis of the relationship between disease phenotype and gene...
- Conservation of the Caenorhabditis elegans timing gene clk-1 from yeast to human: a gene required for ubiquinone biosynthesis with potential implications for agingZ Vajo
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 10 Center Dr MSC 1852, Bldg 10, Room 10C101, Bethesda, Maryland 20892 1852, USA
Mamm Genome 10:1000-4. 1999..The protein similarities and the conservation of function of the CLK-1/clk-1/COQ7 gene products suggest a potential link between the production of ubiquinone and aging...
- Rapid determination of COL2A1 mutations in individuals with Stickler syndrome: analysis of potential premature termination codonsD J Wilkin
Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, The National Institutes of Health, Bethesda, Maryland, USA
Am J Med Genet 94:141-8. 2000....