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Article

A novel mutation of delta-aminolaevulinate dehydratase in a healthy child with 12% erythrocyte enzyme activity.

British journal of haematology - 1 Sept 1999

Akagi R, Yasui Y, Harper P, Sassa S

Abstract excerpt

Cloning, expression and phenotype studies of the defective gene for delta-aminolaevulinate dehydratase (ALAD) in a family with an asymptomatic girl who had ALAD deficiency were carried out. The proband was identified by neonatal ALAD screening, and had erythrocyte ALAD activity at 12% of the normal control. She was heterozygous for ALAD deficiency, which was inherited from her father. Nucleotide sequence analysis...

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Source

Identifiers

PMID: 10519994
DOI: 10.1046/j.1365-2141.1999.01647.x

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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