Published in
Wiley, Clinical Endocrinology, 3(69), p. 511-511, 2008
DOI: 10.1111/j.1365-2265.2008.03193.x
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Isolated R171Q amino acid change inMEN1gene: polymorphism or mutation?
Journal article published in 2008 by
E. De Carlo,
C. Pilon,
M. C. Zatelli 
,
E. C. degli Uberti,
F. Fallo
,
E. C. degli Uberti,
F. Fallo
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Abstract
We suggest that the isolated R171Q amino acid change might be regarded as a point mutation with low penetrance MEN1 phenotype, rather than a harmless polymorphism. Therefore, MEN1 patients carrying this genetic alteration, as well as clinically unaffected carriers, should undergo a careful endocrine investigation and a close clinical and biochemical follow-up.