✦ LIBER ✦

A novel G168X mutation and a recurrent 730-731delCT mutation of the porphobilinogen deaminase gene in Japanese patients with acute intermittent porphyria

✍ Scribed by Susa, Shinji; Daimon, Makoto; Kato, Takeo; Maeda, Naoto

Book ID: 122679056
Publisher: Elsevier Science
Year: 2013
Tongue: English
Weight: 112 KB
Volume: 51
Category: Article
ISSN: 1079-9796
DOI: 10.1016/j.bcmd.2013.02.008

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

High prevalence of a point mutation in t

High prevalence of a point mutation in the porphobilinogen deaminase gene in Dutch patients with acute intermittent porphyria

✍ Xue-Fan Gu; Felix Rooij; J. S. Lee; Kor Velde; Jean Charles Deybach; Yves Nordma 📂 Article 📅 1993 🏛 Springer 🌐 English ⚖ 445 KB

Detection of a high mutation frequency i

Detection of a high mutation frequency in exon 12 of the porphobilinogen deaminase gene in patients with acute intermittent porphyria

✍ C. S. Mgone; W. G. Lanyon; M. R. Moore; G. V. Louie; J. M. Connor 📂 Article 📅 1993 🏛 Springer 🌐 English ⚖ 688 KB

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

A point mutation, C to T, in exon 8 of t

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

✍ Yoshihiro Morita; Makoto Daimon; Mitsutoshi Kashiwaba; Keiichi Yamatani; Masahik 📂 Article 📅 1995 🏛 Nature Publishing Group 🌐 English ⚖ 527 KB

A novel 12-base pair deletion mutation i

A novel 12-base pair deletion mutation in exon 15 of the porphobilinogen deaminase gene in a Taiwanese patient with acute intermittent porphyria

✍ Jun-ichi Sakabe; Shinji Susa; Makoto Daimon; Min-yu Lan; Takeo Kato 📂 Article 📅 2008 🏛 Elsevier Science 🌐 English ⚖ 120 KB

Molecular genetic study of acute intermi

Molecular genetic study of acute intermittent porphyria in Russia: Mutation analysis and functional polymorphism search in porphobilinogen deaminase gene

✍ V. L. Surin; Yu. A. Luchinina; D. S. Selivanova; Ya. S. Pustovoit; I. V. Karpova 📂 Article 📅 2010 🏛 SP MAIK Nauka/Interperiodica 🌐 English ⚖ 354 KB

Acute intermittent porphyria caused by a

Acute intermittent porphyria caused by a G to C mutation in exon 12 of the porphobilinogen deaminase gene that results in exon skipping

✍ Makoto Daimon; Keiichi Yamatani; Masahiko Igarashi; Norio Fukase; Atsushi Ogawa; 📂 Article 📅 1993 🏛 Springer 🌐 English ⚖ 876 KB

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