Literature DB >> 1681504

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

C Picat1, F Bourgeois, B Grandchamp.   

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Year:  1991        PMID： 1681504      PMCID： PMC328849          DOI： 10.1093/nar/19.18.5099

Source DB:  PubMed          Journal:  Nucleic Acids Res        ISSN： 0305-1048            Impact factor:   16.971


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  2 in total

1.  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

2.  Regional gene assignment of human porphobilinogen deaminase and esterase A4 to chromosome 11q23 leads to 11qter.

Authors:  A L Wang; F X Arredondo-Vega; P F Giampietro; M Smith; W F Anderson; R J Desnick
Journal:  Proc Natl Acad Sci U S A       Date:  1981-09       Impact factor: 11.205
  2 in total
  6 in total

Review 1.  Molecular genetics of disorders of haem biosynthesis.

Authors:  G H Elder
Journal:  J Clin Pathol       Date:  1993-11       Impact factor: 3.411

Review 2.  The three-dimensional structures of mutants of porphobilinogen deaminase: toward an understanding of the structural basis of acute intermittent porphyria.

Authors:  P D Brownlie; R Lambert; G V Louie; P M Jordan; T L Blundell; M J Warren; J B Cooper; S P Wood
Journal:  Protein Sci       Date:  1994-10       Impact factor: 6.725

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

Authors:  M Daimon; Y Morita; K Yamatani; M Igarashi; N Fukase; H Ohnuma; K Sugiyama; A Ogawa; H Manaka; M Tominaga
Journal:  Hum Genet       Date:  1993-09       Impact factor: 4.132

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 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
  6 in total

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