A sister and brother with severe porphobilinogen (PBG) deaminase deficiency are described. Each of their parents carries a different mutation for acute intermittent porphyria and the children are homozygous for the PBG-deaminase deficiency that causes this disorder. Both are compound heterozygotes f
Identification of the mutations in the parents of a patient with a putative compound heterozygosity for acute intermittent porphyria
โ Scribed by C. Picat; M. H. Delfau; F. W. M. de Rooij; G. J. J. Beukeveld; B. G. Wolthers; S. K. Wadman; Y. Nordmann; B. Grandchamp
- Publisher
- Springer
- Year
- 1990
- Tongue
- English
- Weight
- 370 KB
- Volume
- 13
- Category
- Article
- ISSN
- 0141-8955
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Direct cDNA sequencing was performed on asymmetrically amplified transcripts from the porphobilinogen deaminase (PBG-D) gene of thirteen unrelated individuals with acute intermittent porphyria. Four different mutations and a polymorphic site were detected in exon 12 of the gene, four being the resul
Acute intermittent porphyria (AIP), the most common hepatic porphyria, results from the half-normal activity of hydroxymethylbilane synthase (HMB-synthase; EC 4.3.1.8), the third enzyme in the heme biosynthetic pathway. Because life-threatening acute neurologic attacks of this autosomal dominant dis