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Article

Insertion of Alu element responsible for acute intermittent porphyria.

Human mutation - 1 Jan 1999

Mustajoki S, Ahola H, Mustajoki P, Kauppinen R

Abstract excerpt

In this study, we report a large Finnish family in which an Alu element interferes with the coding region of the porphobilinogen deaminase (PBGD) gene resulting in acute intermittent porphyria (AIP). Polymerase chain reaction (PCR) and single-strand conformation polymorphism (SSCP) analysis of exon 5 among patients showed an abnormal band around 350 bp apart from the normal bands. Subcloning and sequencing of the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 10408772
DOI: 10.1002/(SICI)1098-1004(1999)13:6<431::AID-HUMU2>3.0.CO;2-Y

Genes

AIP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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