Literature DB >> 2888079

A PstI polymorphism for the human porphobilinogen deaminase gene (PBG).

J S Lee, M Anvret.   

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Year:  1987        PMID： 2888079      PMCID： PMC306097          DOI： 10.1093/nar/15.15.6307

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


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  2 in total

1.  A MspI polymorphism for the human porphobilinogen deaminase gene.

Authors:  D H Llewellyn; N A Kalsheker; G H Elder; P R Harrison; S Chretien; M Goossens
Journal:  Nucleic Acids Res       Date:  1987-02-11       Impact factor: 16.971

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
  7 in total

1.  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

2.  RFLP analysis of three different types of acute intermittent porphyria.

Authors:  R Kauppinen; L Peltonen; A Palotie; P Mustajoki
Journal:  Hum Genet       Date:  1990-07       Impact factor: 4.132

3.  DNA polymorphisms within the porphobilinogen deaminase gene in two Swedish families with acute intermittent porphyria.

Authors:  J S Lee; M Anvret; J Lindsten; L Lannfelt; P Gellerfors; L Wetterberg; Y Floderus; S Thunell
Journal:  Hum Genet       Date:  1988-08       Impact factor: 4.132

4.  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

5.  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 6.  Porphobilinogen deaminase gene structure and molecular defects.

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

7.  Haplotyping of the human porphobilinogen deaminase gene in acute intermittent porphyria by polymerase chain reaction.

Authors:  J S Lee; J Lindsten; M Anvret
Journal:  Hum Genet       Date:  1990-02       Impact factor: 4.132
  7 in total

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