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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...

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Source

Identifiers

PMID: 1973403
DOI: 10.1007/BF00193189

Genes

AIP

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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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