Literature DB >> 21168995

New insight into genotype/phenotype correlations in ABCA12 mutations in harlequin ichthyosis.

H Umemoto, M Akiyama, T Yanagi, K Sakai, Y Aoyama, A Oizumi, Y Suga, Y Kitagawa, H Shimizu.   

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Year:  2010        PMID： 21168995     DOI： 10.1016/j.jdermsci.2010.11.010

Source DB:  PubMed          Journal:  J Dermatol Sci        ISSN： 0923-1811            Impact factor:   4.563


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  3 in total

1.  A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype-phenotype correlations.

Authors:  Martha Montalván-Suárez; Uxia Saraiva Esperón-Moldes; Laura Rodríguez-Pazos; Andrés Ordóñez-Ugalde; Fernanda Moscoso; Nora Ugalde-Noritz; Luis Santomé; Laura Fachal; Daniel Tettamanti-Miranda; Juan Carlos Ruiz; Manuel Ginarte; Ana Vega
Journal:  Mol Genet Genomic Med       Date:  2019-03-27       Impact factor: 2.183

2.  A spontaneous Fatp4/Scl27a4 splice site mutation in a new murine model for congenital ichthyosis.

Authors:  Jianning Tao; Maranke I Koster; Wilbur Harrison; Jennifer L Moran; David R Beier; Dennis R Roop; Paul A Overbeek
Journal:  PLoS One       Date:  2012-11-30       Impact factor: 3.240

3.  Discovery in genetic skin disease: the impact of high throughput genetic technologies.

Authors:  Thiviyani Maruthappu; Claire A Scott; David P Kelsell
Journal:  Genes (Basel)       Date:  2014-08-04       Impact factor: 4.096
  3 in total

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