Literature DB >> 23682801

Novel ABCA12 missense mutation p.Phe2144Ser underlies congenital ichthyosiform erythroderma.

Yoshitaka Shimizu, Kazumitsu Sugiura, Yumi Aoyama, Yasushi Ogawa, Kiyotaka Hitomi, Keiji Iwatsuki, Masashi Akiyama.   

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Year:  2013        PMID： 23682801     DOI： 10.1111/1346-8138.12169

Source DB:  PubMed          Journal:  J Dermatol        ISSN： 0385-2407            Impact factor:   4.005


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  3 in total

1.  Congenital ichthyosiform erythroderma with a novel variant in ABCA12 in a Chinese patient.

Authors:  Zhou Yang; Zhan Qi; Zhe Xu; Wei Li; Lin Ma
Journal:  Pediatr Investig       Date:  2020-03-17

2.  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

3.  Multi-Gene Next-Generation Sequencing for Molecular Diagnosis of Autosomal Recessive Congenital Ichthyosis: A Genotype-Phenotype Study of Four Italian Patients.

Authors:  Tiziana Fioretti; Luigi Auricchio; Angelo Piccirillo; Giuseppina Vitiello; Adelaide Ambrosio; Fabio Cattaneo; Rosario Ammendola; Gabriella Esposito
Journal:  Diagnostics (Basel)       Date:  2020-11-24
  3 in total

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