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Single missense mutation in the tyrosine kinase catalytic domain of the RET protooncogene is associated with multiple endocrine neoplasia type 2B.

Multiple endocrine neoplasia type 2B (MEN 2B) is a human cancer syndrome characterized by medullary thyroid carcinoma (MTC), pheochromocytomas, mucosal neuromas, ganglioneuromas of the intestinal tract, and skeletal and ophthalmic abnormalities. It appears both as an inherited disorder and as de nov...

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Publicat a:Proc Natl Acad Sci U S A
Autors principals: Carlson, K M, Dou, S, Chi, D, Scavarda, N, Toshima, K, Jackson, C E, Wells, S A, Goodfellow, P J, Donis-Keller, H
Format: Artigo
Idioma:Inglês
Publicat: National Academy of Sciences 1994
Matèries:
Accés en línia:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC43203/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/7906417/
https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.91.4.1579
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