Authors:
LM Mulligan, DJ Marsh, BG Robinson, I Schuffenecker, J Zedenius, CJ Lips, RF Gagel, SI Takai, WW Noll, M Fink
Journal name: 
J Intern Med
Citation info: 
238(4):343-346
Abstract: 
The International RET Mutation Consortium was first convened as part of the Fifth International Workshop on Multiple Endocrine Neoplasia, Stockholm, Sweden, in an attempt to analyse the relationship of RET mutation and disease phenotype in the autosomal dominantly inherited multiple endocrine neoplasia type 2 (MEN 2) syndromes. Out of 361 families studied, 41% had MEN 2A, 17.7% MEN 2B, 6.4% FMTC and the remaining subjects were unclassified. RET mutations were detected in 87.3% of families overall. Over 93% of MEN 2B families had the RET 918 ATG-->ACG mutation, while the most frequent mutation detected in MEN 2A families was cysteine codon 634 (87% of all mutations).
DOI: 
http://doi.org/10.1111/j.1365-2796.1995.tb01208.x
Research group: 
Ponder Group
E-pub date: 
01 Oct 1995
Users with this publication listed: 
Bruce Ponder