Literature DB >> 2076270

Molecular genetics of porphyrias.

Y Nordmann1, H de Verneuil, J C Deybach, M H Delfau, B Grandchamp.   

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Year:  1990        PMID： 2076270     DOI： 10.3109/07853899009147275

Source DB:  PubMed          Journal:  Ann Med        ISSN： 0785-3890            Impact factor:   4.709


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  4 in total

Review 1.  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

2.  Peptide Lv augments L-type voltage-gated calcium channels through vascular endothelial growth factor receptor 2 (VEGFR2) signaling.

Authors:  Liheng Shi; Soyoung Ko; Michael L Ko; Andy Jeesu Kim; Gladys Y-P Ko
Journal:  Biochim Biophys Acta       Date:  2015-02-17

3.  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

4.  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
  4 in total

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