Literature DB >> 8103755

Two new polymorphisms in introns 2 and 3 of the human porphobilinogen deaminase gene.

M Daimon1, Y Morita, K Yamatani, M Igarashi, N Fukase, H Ohnuma, K Sugiyama, A Ogawa, H Manaka, M Tominaga.   

Abstract

Sequencing of the polymerase chain reaction amplified exon 2-4 fragment of the human porphobilinogen deaminase gene revealed a G/T polymorphism (I2G and I2T) in intron 2, and a G/A polymorphism (I3G and I3A) in intron 3 of the gene. The frequencies of these alleles are presented.

Entities:  

Mesh：

Substances：

Year:  1993        PMID： 8103755     DOI： 10.1007/bf00219676

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


  5 in total

1.  PCR detection of a G/T polymorphism at exon 10 of the porphobilinogen deaminase gene (PBG-D).

Authors:  X F Gu; J S Lee; M H Delfau; B Grandchamp
Journal:  Nucleic Acids Res       Date:  1991-04-25       Impact factor: 16.971

2.  PCR detection of a C/T polymorphism in exon 1 of the porphobilinogen deaminase gene (PBGD).

Authors:  C Picat; F Bourgeois; B Grandchamp
Journal:  Nucleic Acids Res       Date:  1991-09-25       Impact factor: 16.971

3.  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

4.  Alternative transcription and splicing of the human porphobilinogen deaminase gene result either in tissue-specific or in housekeeping expression.

Authors:  S Chretien; A Dubart; D Beaupain; N Raich; B Grandchamp; J Rosa; M Goossens; P H Romeo
Journal:  Proc Natl Acad Sci U S A       Date:  1988-01       Impact factor: 11.205

5.  Assignment of human porphobilinogen deaminase to 11q24.1----q24.2 by in situ hybridization and gene dosage studies.

Authors:  H Namba; K Narahara; K Tsuji; Y Yokoyama; Y Seino
Journal:  Cytogenet Cell Genet       Date:  1991
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.