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A point mutation, C to T, in exon 8 of the porphobilinogen deaminase gene in a Japanese family with acute intermittent porphyria

โœ Scribed by Yoshihiro Morita; Makoto Daimon; Mitsutoshi Kashiwaba; Keiichi Yamatani; Masahiko Igarashi; Norio Fukase; Hiroshi Ohnuma; Yoshihiro Ikezawa; Kazuhiko Sugiyama; Hideo Manaka; Makoto Tominaga; Hideo Sasaki


Publisher
Nature Publishing Group
Year
1995
Tongue
English
Weight
527 KB
Volume
40
Category
Article
ISSN
1435-232X

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Genomic DNA from a patient with acute intermittent porphyria were analyzed by the polymerase chain reaction (PCR)-direct sequencing method. The patient was heterozygote for a point mutation G to C at the last position of exon 12 of the porphobilinogen deaminase (PBG-D) gene. Analysis of the eDNA fra

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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

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A mutation of the porphobilinogen (PBG) deaminase gene that produces the cross-reacting immunological material (CRIM)-negative type of acute intermittent porphyria (AIP) has been identified in one of 43 unrelated patients with this form of the disorder. The mutation is a C--~T transition that abolis

Frameshift mutations in exons 9 and 10 o
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Single-strand conformation polymorphism analysis was used to screen all 15 exons of the porphobilinogen deaminase gene from 13 patients with acute intermittent porphyria. Unique banding patterns in two amplified gene fragments, one containing exon 9 and another containing exon 10, were further inves

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Direct cDNA sequencing has been performed on asymmetrically amplified transcripts from the human porphobilinogen deaminase gene. Lymphocytes from 30 patients with acute intermittent porphyria were the source of mRNA; of the seven separate point mutations detected, three were silent, whereas four res