Two different point G to A mutations in exon 10 of the porphobilinogen deaminase gene are responsible for acute intermittent porphyria.

Podobne knjige/članki

• A point mutation G----A in exon 12 of the porphobilinogen deaminase gene results in exon skipping and is responsible for acute intermittent porphyria.
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  Izdano: (1989)
• High frequency of mutations in exon 10 of the porphobilinogen deaminase gene in patients with a CRIM-positive subtype of acute intermittent porphyria.
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• Molecular heterogeneity of acute intermittent porphyria: identification of four additional mutations resulting in the CRIM-negative subtype of the disease.
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• PCR detection of a G/T polymorphism at exon 10 of the porphobilinogen deaminase gene (PBG-D).
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• PCR detection of a C/T polymorphism in exon 1 of the porphobilinogen deaminase gene (PBGD)
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