De-novo mutation and sporadic presentation of acute intermittent porphyria.

doi:10.1016/s0140-6736(95)91692-x

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Article

De-novo mutation and sporadic presentation of acute intermittent porphyria.

Lancet (London, England) - 14 Oct 1995

Whatley S D, Roberts A G, Elder G H

Abstract excerpt

Acute intermittent porphyria (AIP) is a low-penetrant autosomal dominant disorder characterised by life-threatening neurovisceral attacks, often precipitated by drugs. Prognosis is improved by presymptomatic diagnosis and counselling. We found that 29 of 103 (28%) unrelated patients presented as...

Topics

Base Sequence
DNA Mutational Analysis
Female
Germ-Line Mutation
Humans
Hydroxymethylbilane Synthase
Molecular Sequence Data
Mutation
Pedigree
Porphyria, Acute Intermittent
Prognosis

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