✦ LIBER ✦

Comparison of complementary and genomic DNA sequencing for the detection of mutations in theHMBSgene in British patients with acute intermittent porphyria: identification of 25 novel mutations

✍ Scribed by Sharon D. Whatley; Jackie R. Woolf; G. H. Elder

Publisher: Springer
Year: 1999
Tongue: English
Weight: 53 KB
Volume: 104
Category: Article
ISSN: 0340-6717
DOI: 10.1007/s004390050995

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Identification of the mutations in the p

Identification of the mutations in the parents of a patient with a putative compound heterozygosity for acute intermittent porphyria

✍ C. Picat; M. H. Delfau; F. W. M. de Rooij; G. J. J. Beukeveld; B. G. Wolthers; S 📂 Article 📅 1990 🏛 Springer 🌐 English ⚖ 370 KB

Detection of seven point mutations in th

Detection of seven point mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria, by direct sequencing of in vitro amplified cDNA

✍ C. S. Mgone; W. G. Lanyon; M. R. Moore; J. M. Connor 📂 Article 📅 1992 🏛 Springer 🌐 English ⚖ 586 KB

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

Molecular analysis of the hydroxymethylb

Molecular analysis of the hydroxymethylbilane synthase (HMBS) gene in Italian patients with acute intermittent porphyria: Report of four novel mutations

✍ Franco Martinez di Montemuros; Elena Di Pierro; Silvia Fargion; Gianfranco Biolc 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 55 KB 👁 2 views

Acute intermittent porphyria (AIP) is an autosomal disorder caused by molecular abnormalities in the hydroxymethylbilane synthase (HMBS) gene coding for the third enzyme in the heme biosynthetic pathway. So far, more than 160 different mutations responsible for AIP have been identified in this gene.

Screening of SLC25A13 mutations in early

Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: Identification of two novel mutations and establishment of multiple DNA diagnosis methods for nine mutations

✍ Naoki Yamaguchi; Keiko Kobayashi; Tomotsugu Yasuda; Ikumi Nishi; Mikio Iijima; M 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 539 KB

We have recently identified SLC25A13 on chromosome 7q21.3 as the gene responsible for adultonset type II citrullinemia (CTLN2) and found seven mutations in the SLC25A13 gene of CTLN2 patients. Most recently, the SLC25A13 mutations have been detected in neonatal/infantile patients with a type of neon