Molecular analysis of δ-aminolevulinate dehydratase deficiency in a patient with an unusual late-onset porphyria

Blood

Volumn 96, Issue 10, 2000, Pages 3618-3623

  Akagi, R ^a   Nishitani, C ^a   Harigae, H ^a   Horie, Y ^a   Garbaczewski, L ^a   Hassoun, A ^a   Mercelis, R ^a   Verstraeten, L ^a   Sassa, S ^a  

^a ROCKEFELLER UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PORPHOBILINOGEN SYNTHASE;

ADULT; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHO CELL; ENZYME ACTIVITY; ENZYME DEFICIENCY; ERYTHROCYTE; GENE EXPRESSION; GENETIC ANALYSIS; HETEROZYGOSITY; HUMAN; HUMAN CELL; MALE; NUCLEIC ACID BASE SUBSTITUTION; POLYCYTHEMIA; PORPHYRIA; PRIORITY JOURNAL; PROTEIN EXPRESSION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

EID: 0034670043     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v96.10.3618.h8003618_3618_3623     Document Type: Article

References (28)

1. The purification and properties of δ-aminolevulinic acid dehydrase
2. δ-Aminolevulinic acid dehydratase assay
3. Inherited deficiency of δ-aminolevulinic acid dehydratase
4. A novel mutation of δ-aminolaevulinate dehydratase in a healthy child with 12% erythrocyte enzyme activity
5. New type of hepatic porphyria with porphobilinogen synthase defect and intermittent acute clinical manifestation
6. Aminolevulinate dehydratase porphyria in infancy: A clinical and biochemical study
7. Biochemical diagnosis of an hereditary aminolaevulinate dehydratase deficiency in a 63-year-old man
8. Cloning and expression of the defective genes from a patient with δ-aminolevulinate dehydratase porphyria
9. Novel molecular defects of the δ-aminolevulinate dehydratase gene in a patient with inherited acute hepatic porphyria
10. δ-Aminolevulinate dehydratase deficient porphyria: Identification of the molecular lesions in a severely affected homozygote
11. Porphyric neuropathy and hereditary δ-aminolevulinic acid dehydratase deficiency in an adult
12. Hereditary hepatic porphyria due to homozygous δ-aminolevulinic acid dehydratase deficiency: Studies in lymphocytes and erythrocytes
13. Diagnosis and therapy of acute intermittent porphyria
14. The porphyrias
15. A method for isolation of intact, transcriptionally active ribonucleic acid
16. DNA sequencing with chain-terminating inhibitors
17. An immunological study of δ-aminolevulinic acid dehydratase: Specificity consistent with the phylogeny of species
18. Base composition-independent hybridization in tetramethylammonium chloride: A method for oligonucleotide screening of highly complex gene libraries
19. Human δ-aminolevulinate dehydratase (ALAD) gene: Structure and alternative splicing of the erythroid and housekeeping mRNAs
20. Isolation of a rat liver delta-aminolevulinate dehydrase (ALAD) cDNA clone: Evidence for unequal ALAD gene dosage among inbred mouse strains
21. Cloning and sequence of mouse erythroid δ-aminolevulinate dehydratase cDNA
22. Molecular cloning of a cDNA for human δ-aminolevulinate dehydratase
23. Molecular characterization of the human δ-aminolevulinate dehydratase 2 (ALAD2) allele: Implications for molecular screening of individuals for genetic susceptibility to lead poisoning
24. Genetic heterogeneity of δ-aminolevulinate dehydrase and phosphoglycolate phosphatase in north-west Spain
25. Genetic regulation of delta-aminolevulinate dehydratase during erythropoiesis
26. A common progenitor for human myeloid and lymphoid cells
27. Polycythemia vera: Stem-cell and probable clonal origin of the disease
28. Pancytopenia as a clonal disorder of a multipotent hematopoietic stem cell