Skip to main content

Table 3 Mutations in SLC7A7 gene

From: Update on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthood

Family 1 2 3 4 5 6
Tested patient(s) 2, 14, 15 3, 4 16 8 10 12
Non tested related patients 1   5, 7 13   
consanguinity +   + + + +
Mutation(s) c.726G > A(p.Trp242*) c.753G > C (p.Glu251Asp) c.1185_1188deITTCT c.726G > A(p.Trp242*) c.254_255deITT c.1417C > T (p.Arg473*)
   c.1185 1188deITTCTa     
Publication(s) Sperandeo et al, 2000 Mykkanen et al, 2000a Mykkanen et al, 2000 Sperandeo et al, 2000 Mykkanen et al, 2000 Mykkanen et al, 2000