The RET E616Q Variant is a Gain of Function Mutation Present in a Family with Features of Multiple Endocrine Neoplasia 2A

The REarranged during Transfection ( RET ) proto-oncogene is a receptor tyrosine kinase involved in growth and differentiation during embryogenesis and maintenance of the urogenital and nervous systems in mammals. Distinct mutations across hotspot RET exons can cause Multiple Endocrine Neoplasia Typ...

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Veröffentlicht in:	Endocrine pathology 2017-03, Vol.28 (1), p.41-48
Hauptverfasser:	Grey, William, Hulse, Rosaline, Yakovleva, Anna, Genkova, Dilyana, Whitelaw, Benjamin, Solomon, Ellen, Diaz-Cano, Salvador J., Izatt, Louise
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Blotting, Western Endocrinology Female Humans Male Medicine Medicine & Public Health Multiple Endocrine Neoplasia Type 2a - genetics Mutagenesis, Site-Directed Mutation Oncology Pathology Pedigree Proto-Oncogene Proteins c-ret - genetics
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