Neurofibromatosis type 1 : from genotype to phenotype
著者
書誌事項
Neurofibromatosis type 1 : from genotype to phenotype
Bios Scientific, 1998
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注記
Includes bibliographies and index
内容説明・目次
内容説明
Neurofibromatosis type 1 (NF1) is a common disease affecting 1 in 4000 individuals world-wide. Symptoms include facial and body disfigurement, mental retardation and abnormalities of the cardiovascular, renal and endocrine systems. The book begins with
目次
- 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
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