Associated Papers
Estimating carrier rates and prevalence of porphyria-associated gene variants in the Chinese population based on genetic databases.
Wang Y et al.
Orphanet Journal of Rare Diseases, 2024
Molecular Analysis of 55 Spanish Patients with Acute Intermittent Porphyria.
Morán-Jiménez MJ et al.
Genes, 2020
Molecular genetic study of acute intermittent porphyria in Russia: HMBS gene mutation spectrum and problem of penetrance.
Goncharova M et al.
Clinical Genetics, 2019
Nine mutations including three novel mutations among Russian patients with acute intermittent porphyria.
Pischik E et al.
Human Mutation, 2005
Steady-state transcript levels of the porphobilinogen deaminase gene in patients with acute intermittent porphyria.
Mustajoki S et al.
Genome Research, 1997
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