ANALYSIS OF THE MOLECULAR MECHANISMS LEADING TO THE INACTIVATION OF THE RECEPTOR TYROSINE KINASES RET AND NTRK1 IN HSCR AND CIPA CONGENITAL DISORDERS
- 2 Anni 1997/1999
- 72.304€ Totale Fondi
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Pubblicazioni Scientifiche
- 1999 AMERICAN JOURNAL OF HUMAN GENETICS
A novel NTRK1 mutation associated with congenital insensitivity to pain with anhidrosis
- 2000 Journal of cellular physiology
The Gly571arg mutation, associated with the autonomic and sensory disorder congenital insensitivity to pain with anhidrosis, causes the inactivation of the NTRK1/nerve growth factor receptor