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

doi:10.1172/JCI115732

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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 nucleotid...

Topics

Alleles
Amino Acid Sequence
Animals
Base Sequence
CHO Cells
Cloning, Molecular
Cricetinae
DNA
Humans
Molecular Sequence Data
Mutation
Oligodeoxyribonucleotides

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Oligonucleotide Probes

Phenotype

Polymerase Chain Reaction

Porphobilinogen Synthase

Porphyrias

Recombinant Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 1569184
DOI: 10.1172/JCI115732
PMCID: PMC443012

Genes

ALAD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1569184-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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