Literature DB >> 2434931

A MspI polymorphism for the human porphobilinogen deaminase gene.

D H Llewellyn, N A Kalsheker, G H Elder, P R Harrison, S Chretien, M Goossens.   

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Year:  1987        PMID： 2434931      PMCID： PMC340547          DOI： 10.1093/nar/15.3.1349

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


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  2 in total

1.  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.  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
  2 in total
  11 in total

1.  Further mapping of an ataxia-telangiectasia locus to the chromosome 11q23 region.

Authors:  O Sanal; S Wei; T Foroud; U Malhotra; P Concannon; P Charmley; W Salser; K Lange; R A Gatti
Journal:  Am J Hum Genet       Date:  1990-11       Impact factor: 11.025

2.  Localization of an ataxia-telangiectasia locus to a 3-cM interval on chromosome 11q23: linkage analysis of 111 families by an international consortium.

Authors:  T Foroud; S Wei; Y Ziv; E Sobel; E Lange; A Chao; T Goradia; Y Huo; A Tolun; L Chessa; P Charmley; O Sanal; N Salman; C Julier; P Concannon; C McConville; A M Taylor; Y Shiloh; S K Lange; R A Gatti
Journal:  Am J Hum Genet       Date:  1991-12       Impact factor: 11.025

3.  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

4.  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

5.  Evidence for genetic heterogeneity in tuberous sclerosis.

Authors:  J R Sampson; J R Yates; L A Pirrit; P Fleury; I Winship; P Beighton; J M Connor
Journal:  J Med Genet       Date:  1989-08       Impact factor: 6.318

Review 6.  Regulation of erythroid cell-specific gene expression during erythropoiesis.

Authors:  P R Harrison; M Plumb; J Frampton; D Llewellyn; J Chester; I Chambers; K MacLeod; J Fleming; J O'Prey; M Walker
Journal:  Br J Cancer Suppl       Date:  1988-12

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

Authors:  J S Lee; M Anvret
Journal:  Nucleic Acids Res       Date:  1987-08-11       Impact factor: 16.971

8.  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 9.  Porphobilinogen deaminase gene structure and molecular defects.

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

10.  High-resolution linkage mapping for susceptibility genes in human polygenic disease: insulin-dependent diabetes mellitus and chromosome 11q.

Authors:  R N Hyer; C Julier; J D Buckley; M Trucco; J Rotter; R Spielman; A Barnett; S Bain; C Boitard; I Deschamps
Journal:  Am J Hum Genet       Date:  1991-02       Impact factor: 11.025
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