Kidney malformations and Hirschsprung's disease in carriers of cysteine mutations in exon 10 of the RET proto-oncogene.

Andreas MachensKerstin LorenzHenning Dralle

Published in: Endocrine (2021)

Hirschsprung's disease and kidney malformations are the more penetrant, the closer the cysteine mutations are located to the transmembrane domain (codon 636-657) of the RET kinase receptor.

Keyphrases

fluorescent probe
living cells
tyrosine kinase
protein kinase