Literature DB >> 2227955

Acute intermittent porphyria caused by a C----T mutation that produces a stop codon in the porphobilinogen deaminase gene.

G A Scobie1, D H Llewellyn, A J Urquhart, S J Smyth, N A Kalsheker, P R Harrison, G H Elder.   

Abstract

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 abolishes a PstI recognition site in exon 9 of the gene and converts a codon for glutamine to a stop codon.

Entities:  

Mesh：

Substances：

Year:  1990        PMID： 2227955     DOI： 10.1007/bf00193588

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  12 in total

1.  A point mutation G----A in exon 12 of the porphobilinogen deaminase gene results in exon skipping and is responsible for acute intermittent porphyria.

Authors:  B Grandchamp; C Picat; F de Rooij; C Beaumont; P Wilson; J C Deybach; Y Nordmann
Journal:  Nucleic Acids Res       Date:  1989-08-25       Impact factor: 16.971

2.  Acute intermittent porphyria: characterization of a novel mutation in the structural gene for porphobilinogen deaminase. Demonstration of noncatalytic enzyme intermediates stabilized by bound substrate.

Authors:  R J Desnick; L T Ostasiewicz; P A Tishler; P Mustajoki
Journal:  J Clin Invest       Date:  1985-08       Impact factor: 14.808

3.  Evidence that the pyrromethane cofactor of hydroxymethylbilane synthase (porphobilinogen deaminase) is bound to the protein through the sulphur atom of cysteine-242.

Authors:  A D Miller; G J Hart; L C Packman; A R Battersby
Journal:  Biochem J       Date:  1988-09-15       Impact factor: 3.857

4.  A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity.

Authors:  A P Feinberg; B Vogelstein
Journal:  Anal Biochem       Date:  1983-07-01       Impact factor: 3.365

5.  Tissue-specific splicing mutation in acute intermittent porphyria.

Authors:  B Grandchamp; C Picat; V Mignotte; J H Wilson; K Te Velde; L Sandkuyl; P H Roméo; M Goossens; Y Nordmann
Journal:  Proc Natl Acad Sci U S A       Date:  1989-01       Impact factor: 11.205

6.  Diagnosis of alpha 1-antitrypsin deficiency by enzymatic amplification of human genomic DNA and direct sequencing of polymerase chain reaction products.

Authors:  C R Newton; N Kalsheker; A Graham; S Powell; A Gammack; J Riley; A F Markham
Journal:  Nucleic Acids Res       Date:  1988-09-12       Impact factor: 16.971

7.  Molecular analysis of acute intermittent porphyria in a Finnish family with normal erythrocyte porphobilinogen deaminase.

Authors:  B Grandchamp; C Picat; R Kauppinen; V Mignotte; L Peltonen; P Mustajoki; P H Roméo; M Goossens; Y Nordmann
Journal:  Eur J Clin Invest       Date:  1989-10       Impact factor: 4.686

8.  Tissue-specific expression of porphobilinogen deaminase. Two isoenzymes from a single gene.

Authors:  B Grandchamp; H De Verneuil; C Beaumont; S Chretien; O Walter; Y Nordmann
Journal:  Eur J Biochem       Date:  1987-01-02

9.  DNA polymorphism of human porphobilinogen deaminase gene in acute intermittent porphyria.

Authors:  D H Llewellyn; G H Elder; N A Kalsheker; O W Marsh; P R Harrison; B Grandchamp; C Picat; Y Nordmann; P H Romeo; M Goossens
Journal:  Lancet       Date:  1987-09-26       Impact factor: 79.321

10.  Molecular cloning and complete primary sequence of human erythrocyte porphobilinogen deaminase.

Authors:  N Raich; P H Romeo; A Dubart; D Beaupain; M Cohen-Solal; M Goossens
Journal:  Nucleic Acids Res       Date:  1986-08-11       Impact factor: 16.971
View more
  17 in total

1.  High frequency of mutations in exon 10 of the porphobilinogen deaminase gene in patients with a CRIM-positive subtype of acute intermittent porphyria.

Authors:  X F Gu; F de Rooij; G Voortman; K Te Velde; Y Nordmann; B Grandchamp
Journal:  Am J Hum Genet       Date:  1992-09       Impact factor: 11.025

2.  Genetic heterogeneity of the porphobilinogen deaminase gene in Swedish families with acute intermittent porphyria.

Authors:  J S Lee; G Lundin; L Lannfelt; L Forsell; C Picat; B Grandchamp; M Anvret
Journal:  Hum Genet       Date:  1991-08       Impact factor: 4.132

3.  Molecular heterogeneity of acute intermittent porphyria: identification of four additional mutations resulting in the CRIM-negative subtype of the disease.

Authors:  M H Delfau; C Picat; F De Rooij; G Voortman; J C Deybach; Y Nordmann; B Grandchamp
Journal:  Am J Hum Genet       Date:  1991-08       Impact factor: 11.025

4.  Acute intermittent porphyria: identification and expression of exonic mutations in the hydroxymethylbilane synthase gene. An initiation codon missense mutation in the housekeeping transcript causes "variant acute intermittent porphyria" with normal expression of the erythroid-specific enzyme.

Authors:  C H Chen; K H Astrin; G Lee; K E Anderson; R J Desnick
Journal:  J Clin Invest       Date:  1994-11       Impact factor: 14.808

Review 5.  Porphobilinogen deaminase gene structure and molecular defects.

Authors:  J C Deybach; H Puy
Journal:  J Bioenerg Biomembr       Date:  1995-04       Impact factor: 2.945

6.  Detection of eleven mutations causing acute intermittent porphyria using denaturing gradient gel electrophoresis.

Authors:  X F Gu; F de Rooij; G Voortman; K Te Velde; J C Deybach; Y Nordmann; B Grandchamp
Journal:  Hum Genet       Date:  1994-01       Impact factor: 4.132

7.  Two new mutations in the porphobilinogen deaminase gene and a screening method using PCR amplification of specific alleles.

Authors:  G Lundin; A Wedell; S Thunell; M Anvret
Journal:  Hum Genet       Date:  1994-01       Impact factor: 4.132

8.  Frameshift mutations in exons 9 and 10 of the porphobilinogen deaminase gene produce a crossreacting immunological material (CRIM)-negative form of acute intermittent porphyria.

Authors:  W E Schreiber; F Fong; A Jamani
Journal:  Hum Genet       Date:  1994-05       Impact factor: 4.132

9.  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.

Authors:  M Daimon; K Yamatani; M Igarashi; N Fukase; Y Morita; A Ogawa; M Tominaga; H Sasaki
Journal:  Hum Genet       Date:  1994-05       Impact factor: 4.132

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

Authors:  X F Gu; F de Rooij; J S Lee; K Te Velde; J C Deybach; Y Nordmann; B Grandchamp
Journal:  Hum Genet       Date:  1993-03       Impact factor: 4.132
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.