Acute intermittent porphyria: Characterization of two novel mutations in the porphobilinogen deaminase gene, one amino acid deletion (453-455delAGC) and one splicing aceptor site mutation (IVS8-1G>T).

Autor: De Siervi, Adriana, Mendez, Manuel, Parera, Victoria Estela, Varela, Laura, Batlle, Alcira M. del C., Rossetti, Maria Victoria
Zdroj: Human Mutation; Oct1999, Vol. 14 Issue 4, p355-355, 1p
Databáze: Complementary Index
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