Associated Papers
Background splicing as a predictor of aberrant splicing in genetic disease.
Alexieva D et al.
Rna Biology, 2022
35188075 (PubMed )
Supplement: KRNB_A_2024031_SM7960.zip › Supplementary_information › Table_S2_css.xlsx › DBASS3_index
May 2006 update in porphobilinogen deaminase gene polymorphisms and mutations causing acute intermittent porphyria: comparison with the situation in Slavic population.
Hrdinka M et al.
Physiological Research, 2006
Two new mutations (H106P and L178V) in the protoporphyrinogen oxidase gene in Argentinean patients with variegate porphyria.
De Siervi A et al.
Human Mutation, 2000
Identification and characterization of two novel mutations that produce acute intermittent porphyria: A 3-base deletion (841-843delGGA) and a missense mutation (T35M).
De Siervi A et al.
Human Mutation, 2000
A novel mutation (1320InsT) identified in two Argentine families with variegate porphyria.
Siervi AD et al.
Human Mutation, 2000
Molecular analysis of the hydroxymethylbilane synthase (HMBS) gene in Italian patients with acute intermittent porphyria: report of four novel mutations.
Martinez di Montemuros F et al.
Human Mutation, 2000
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).
De Siervi A et al.
Human Mutation, 1999
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