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.
Isolated R171Q amino acid change in MEN1 gene: polymorphism or mutation?
PILON, CATIA;FALLO, FRANCESCO
2008
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.
File in questo prodotto:
| File | Dimensione | Formato | |
|---|---|---|---|
|
CLINENDO08.pdf
Accesso riservato
Tipologia:
Published (Publisher's Version of Record)
Licenza:
Accesso privato - non pubblico
Dimensione
71.11 kB
Formato
Adobe PDF
|
71.11 kB | Adobe PDF | Visualizza/Apri Richiedi una copia |
Pubblicazioni consigliate
I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
