Literature DB >> 21729033

Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma.

S Fukuda, T Hamada, N Ishii, S Sakaguchi, K Sakai, M Akiyama, H Shimizu, K Masuda, K Izu, K Teye, D Tsuruta, T Karashima, T Nakama, S Yasumoto, T Hashimoto.   

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Year:  2011        PMID： 21729033     DOI： 10.1111/j.1365-2133.2011.10516.x

Source DB:  PubMed          Journal:  Br J Dermatol        ISSN： 0007-0963            Impact factor:   9.302


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  1 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
  1 in total

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