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Article

RFLP analysis of three different types of acute intermittent porphyria.

Human genetics - 1 Jul 1990

Kauppinen R, Peltonen L, Palotie A, Mustajoki P

Abstract excerpt

Restriction fragment length polymorphism (RFLP) analysis was performed in three Finnish families with different subtypes of acute intermittent porphyria (AIP): 1) cross-reacting immunological material (CRIM)-negative with low erythrocyte porphobilinogen (PBG)-deaminase activity, 2) CRIM-positive with low PBG-deaminase activity and 3) CRIM-negative with normal PBG-deaminase activity. The disease-associated RFLP...

Topics

Acute Disease
Alleles
Ammonia-Lyases
Family Health
Female
Finland
Gene Frequency
Haplotypes
Heterozygote
Humans
Hydroxymethylbilane Synthase
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Pedigree

Polymorphism, Restriction Fragment Length

Porphyrias

Source

Identifiers

PMID: 1973403
DOI: 10.1007/BF00193189

Genes

AIP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1973403-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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RFLP analysis of three different types of acute intermittent porphyria.PMID 1973403Read ↗

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Linkage disequilibrium between DNA polymorphisms within the porphobilinogen deaminase gene.Semantic proximity Read ↗

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Clinical and biochemical characteristics and genotype-phenotype correlation in 143 Finnish and Russian patients with acute intermittent porphyria.Semantic proximity Read ↗

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