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Homozygous acute intermittent porphyria: compound heterozygosity for adjacent base transitions in the same codon of the porphobilinogen deaminase gene

✍ Scribed by D. H. Llewellyn; S. J. Smyth; G. H. Elder; A. C. Hutchesson; J. M. Rattenbury; M. F. Smith

Publisher: Springer
Year: 1992
Tongue: English
Weight: 215 KB
Volume: 89
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00207051

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✦ Synopsis

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 for adjacent base transitions in the same codon in exon 10 of the PBG deaminase gene.

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Acute intermittent porphyria caused by a single base insertion of C in exon 15 of the porphobilinogen deaminase gene that results in a frame shift and premature stopping of translation

✍ Makoto Daimon; Keiichi Yamatani; Masahiko Igarashi; Norio Fukase; Yoshihiro Mori 📂 Article 📅 1994 🏛 Springer 🌐 English ⚖ 1013 KB

A single base insertion of C in exon 15 of the porphobilinogen deaminase (PBG-D) gene was observed in a patient with acute intermittent porphyria (AIP) by polymerase chain reaction (PCR)-direct sequencing analysis. The insertion locates between positions -22 and -21 from the translation termination