Literature DB >> 8262514

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

M Daimon1, K Yamatani, M Igarashi, N Fukase, A Ogawa, M Tominaga, H Sasaki.   

Abstract

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 cDNA fragments amplified by PCR revealed that the patient has the abnormal PBG-D mRNA, which does not have exon 12 and exists in an approximately equal amount to the normal mRNA.

Entities:  

Mesh：

Substances：

Year:  1993        PMID： 8262514     DOI： 10.1007/bf00420937

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


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

Authors:  D H Llewellyn; S J Smyth; G H Elder; A C Hutchesson; J M Rattenbury; M F Smith
Journal:  Hum Genet       Date:  1992-04       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.  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

5.  Two different point G to A mutations in exon 10 of the porphobilinogen deaminase gene are responsible for acute intermittent porphyria.

Authors:  M H Delfau; C Picat; F W de Rooij; K Hamer; M Bogard; J H Wilson; J C Deybach; Y Nordmann; B Grandchamp
Journal:  J Clin Invest       Date:  1990-11       Impact factor: 14.808

6.  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

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

Authors:  C S Mgone; W G Lanyon; M R Moore; J M Connor
Journal:  Hum Genet       Date:  1992 Sep-Oct       Impact factor: 4.132

9.  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

10.  Identification of the most common mutation within the porphobilinogen deaminase gene in Swedish patients with acute intermittent porphyria.

Authors:  J S Lee; M Anvret
Journal:  Proc Natl Acad Sci U S A       Date:  1991-12-01       Impact factor: 11.205
View more
  5 in total

1.  Heteroduplex analysis detects frameshift and point mutations in patients with acute intermittent porphyria.

Authors:  W E Schreiber; F Fong; B A Nassar; A Jamani
Journal:  Hum Genet       Date:  1995-08       Impact factor: 4.132

2.  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 3.  Porphobilinogen deaminase gene structure and molecular defects.

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

4.  Four mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria.

Authors:  G Lundin; J Hashemi; Y Floderus; S Thunell; E Sagen; A Laegreid; W Wassif; T Peters; M Anvret
Journal:  J Med Genet       Date:  1995-12       Impact factor: 6.318

5.  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
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.