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Article

Novel molecular defects of the delta-aminolevulinate dehydratase gene in a patient with inherited acute hepatic porphyria.

Hepatology (Baltimore, Md.) - 1 Mar 2000

Akagi R, Shimizu R, Furuyama K, Doss M O, Sassa S

Abstract excerpt

Cloning and expression of the defective gene for delta-aminolevulinate dehydratase (ALAD) from the second of 2 German patients with ALAD deficiency porphyria (ADP), who had been originally reported by Doss et al. in 1979, were performed. Cloning of cDNAs for the defective ALAD were performed using Epstein-Barr virus (EBV)-transformed lymphoblastoid cells of the proband, and nucleotide sequences of cloned cDNA...

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Source

Identifiers

PMID: 10706561
DOI: 10.1002/hep.510310321

Genes

ALAD

Variants

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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Novel molecular defects of the delta-aminolevulinate dehydratase gene in a patient with inherited acute hepatic porphyria.PMID 10706561Read ↗

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

Molecular analysis of delta-aminolevulinate dehydratase deficiency in a patient with an unusual late-onset porphyria.Semantic proximity Read ↗

Cloning and expression of the defective genes in delta-aminolevulinate dehydratase porphyria: compound heterozygosity in this hereditary liver disease.Semantic proximity Read ↗

delta-Aminolevulinate dehydratase (ALAD) porphyria: the first case in North America with two novel ALAD mutations.Semantic proximity Read ↗

Highly heterogeneous nature of delta-aminolevulinate dehydratase (ALAD) deficiencies in ALAD porphyria.Semantic proximity Read ↗

Molecular characterization of the human delta-aminolevulinate dehydratase 2 (ALAD2) allele: implications for molecular screening of individuals for genetic susceptibility to lead poisoning.Semantic proximity Read ↗

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Delta-aminolevulinic acid dehydratase genotype and lead toxicity: a HuGE review.Semantic proximity Read ↗

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