Literature DB >> 8268934

Two novel mutations of the porphobilinogen deaminase gene in acute intermittent porphyria.

X F Gu1, F de Rooij, E de Baar, M Bruyland, W Lissens, Y Nordmann, B Grandchamp.   

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Year:  1993        PMID： 8268934     DOI： 10.1093/hmg/2.10.1735

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  8 in total

1.  Identification and expression of mutations in the hydroxymethylbilane synthase gene causing acute intermittent porphyria (AIP).

Authors:  C Solis; I Lopez-Echaniz; D Sefarty-Graneda; K H Astrin; R J Desnick
Journal:  Mol Med       Date:  1999-10       Impact factor: 6.354

2.  Mutation hotspots in the human porphobilinogen deaminase gene: recurrent mutations G111R and R173Q occurring at CpG motifs.

Authors:  X Schneider-Yin; M Hergersberg; M M Schuurmans; A Gregor; E I Minder
Journal:  J Inherit Metab Dis       Date:  2004       Impact factor: 4.982

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

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

5.  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

6.  Porphobilmogen deaminase gene mutations in Brazilian acute intermittent porphyria patients.

Authors:  Georgina Severo Ribeiro; Paulo Eurípedes Marchiori; Paula Marzorati Kuntz Puglia; Maria Aparecida Nagai; Mariana Lopes Dos Santos; Kimiyo Nonoyama; Mário Hiroyuki Hirata; Orlando C O Barretto
Journal:  J Clin Lab Anal       Date:  2002       Impact factor: 2.352

7.  Acute intermittent porphyria in Argentina: an update.

Authors:  Gabriela Nora Cerbino; Esther Noemí Gerez; Laura Sabina Varela; Viviana Alicia Melito; Victoria Estela Parera; Alcira Batlle; María Victoria Rossetti
Journal:  Biomed Res Int       Date:  2015-05-17       Impact factor: 3.411

8.  Molecular Analysis of 55 Spanish Patients with Acute Intermittent Porphyria.

Authors:  María-José Morán-Jiménez; María-José Borrero-Corte; Fátima Jara-Rubio; Inmaculada García-Pastor; Silvia Díaz-Díaz; Francisco-Javier Castelbón-Fernandez; Rafael Enríquez-de-Salamanca; Manuel Méndez
Journal:  Genes (Basel)       Date:  2020-08-12       Impact factor: 4.096
  8 in total

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