From Genotype to Phenotype
"This book provides a useful compendium of information for researchers in this field" Human Genetics 1999: 104
Neurofibromatosis type 1: historical perspective and introductory; overview; Clinical aspects of neurofibromatosis 1; Gene structure and expression; The NF1 Genetic Analysis Consortium; The mutational spectrum in neurofibromatosis 1 and its underlying me