Albert de la Chapelle
Cancer Genetics (United States)(US)Folkhälsans Forskningscentrum(FI)The Ohio State University(US)
Publications by Year
Research Areas
Glycosylation and Glycoproteins Research, RNA Research and Splicing, Lysosomal Storage Disorders Research, Peroxisome Proliferator-Activated Receptors, Sphingolipid Metabolism and Signaling
Most-Cited Works
- → Loss-of-Function Mutations in PPARγ Associated with Human Colon Cancer(1999)508 cited
- → The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8(1999)318 cited
- → Missense and nonsense mutations in codon 659 ofMLH1 cause aberrant splicing of messenger RNA in HNPCC kindreds(1999)39 cited
- → High-Resolution Mapping and Transcript Identification at the Progressive Epilepsy with Mental Retardation Locus on Chromosome 8p(1997)27 cited