Literature DB >> 2030987

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

X F Gu1, J S Lee, M H Delfau, B Grandchamp.   

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Year:  1991        PMID： 2030987      PMCID： PMC328159          DOI： 10.1093/nar/19.8.1966

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


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  1 in total

1.  A point mutation G----A in exon 12 of the porphobilinogen deaminase gene results in exon skipping and is responsible for acute intermittent porphyria.

Authors:  B Grandchamp; C Picat; F de Rooij; C Beaumont; P Wilson; J C Deybach; Y Nordmann
Journal:  Nucleic Acids Res       Date:  1989-08-25       Impact factor: 16.971
  1 in total
  9 in total

Review 1.  Biological and nanotechnological applications using interactions between ionic liquids and nucleic acids.

Authors:  Hisae Tateishi-Karimata; Naoki Sugimoto
Journal:  Biophys Rev       Date:  2018-04-23

2.  Heteroduplex analysis detects frameshift and point mutations in patients with acute intermittent porphyria.

Authors:  W E Schreiber; F Fong; B A Nassar; A Jamani
Journal:  Hum Genet       Date:  1995-08       Impact factor: 4.132

Review 3.  Molecular genetics of disorders of haem biosynthesis.

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

4.  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

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.  Frameshift mutations in exons 9 and 10 of the porphobilinogen deaminase gene produce a crossreacting immunological material (CRIM)-negative form of acute intermittent porphyria.

Authors:  W E Schreiber; F Fong; A Jamani
Journal:  Hum Genet       Date:  1994-05       Impact factor: 4.132

8.  Detection of a high mutation frequency in exon 12 of the porphobilinogen deaminase gene in patients with acute intermittent porphyria.

Authors:  C S Mgone; W G Lanyon; M R Moore; G V Louie; J M Connor
Journal:  Hum Genet       Date:  1993-12       Impact factor: 4.132

9.  Identification of the most common mutation within the porphobilinogen deaminase gene in Swedish patients with acute intermittent porphyria.

Authors:  J S Lee; M Anvret
Journal:  Proc Natl Acad Sci U S A       Date:  1991-12-01       Impact factor: 11.205
  9 in total

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