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Mutations in SLC7A7 gene
| 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 |
