LYSINURIC PROTEIN INTOLERANCE: MOLECULAR AND CELLULAR BASES OF A MULTI-SYSTEM INHERITED DISORDER
- 6.3 Anni 2000/2006
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Pubblicazioni Scientifiche
- 2005 EUROPEAN JOURNAL OF HUMAN GENETICS
A y(+)LAT-1 mutant protein interferes with y(+)LAT-2 activity: implications for the molecular pathogenesis of lysinuric protein intolerance
- 2006 CLINICAL DYSMORPHOLOGY
Mosaic 13q13.2-ter deletion restricted to tissues of ectodermal and mesodermal origins
