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Article

Cloning and expression of the defective genes from a patient with delta-aminolevulinate dehydratase porphyria.

The Journal of clinical investigation - 1 May 1992

Ishida N, Fujita H, Fukuda Y, Noguchi T, Doss M, Kappas A, Sassa S

Abstract excerpt

Cloning and expression of the defective genes for delta-aminolevulinate dehydratase (ALAD) from a patient with inherited ALAD deficiency porphyria (ADP) were carried out. Cloning of cDNAs for the defective ALAD were performed from EBV-transformed lymphoblastoid cells of the proband, and nucleotide sequences were determined. Two separate point mutations resulting in a single amino acid change in each ALAD allele...

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Source

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Identifiers

PMID: 1569184
DOI: 10.1172/JCI115732
PMCID: PMC443012

Genes

ALAD

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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Cloning and expression of the defective genes from a patient with delta-aminolevulinate dehydratase porphyria.PMID 1569184Read ↗

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