期刊
TRENDS IN GENETICS
卷 16, 期 6, 页码 265-271出版社
ELSEVIER SCIENCE LONDON
DOI: 10.1016/S0168-9525(00)02021-7
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资金
- NIDCR NIH HHS [R01 DE12581] Funding Source: Medline
Mutations in receptor tyrosine kinases (RTKs) have been linked to an increasing number of inherited human disease syndromes, including dwarfism, craniosynostosis, heritable cancer susceptibility, venous malformation and Piebaldism. Both gain-of-function mutations resulting in constitutive receptor activation, and loss-of-function mutations resulting in nan-functional or dominant negative receptors, have been observed. This review summarizes RTK families that are involved in inherited syndromes, describes the molecular consequences of the disease mutations, and predicts that many novel mutations remain to be identified.
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