Literature DB >> 32567073

A novel ABCA12 frameshift mutation segregates with ichthyosis fetalis in a Polled Hereford calf.

Katie L M Eager1, Liberty E Conyers2, Shernae A Woolley1,3, Imke Tammen3, Brendon A O'Rourke1.   

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Year:  2020        PMID： 32567073     DOI： 10.1111/age.12973

Source DB:  PubMed          Journal:  Anim Genet        ISSN： 0268-9146            Impact factor:   3.169


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  2 in total

1.  DSP missense variant in a Scottish Highland calf with congenital ichthyosis, alopecia, acantholysis of the tongue and corneal defects.

Authors:  Irene M Häfliger; Caroline T Koch; Astrid Michel; Silvia Rüfenacht; Mireille Meylan; Monika M Welle; Cord Drögemüller
Journal:  BMC Vet Res       Date:  2022-01-07       Impact factor: 2.741

2.  A frameshift insertion in FA2H causes a recessively inherited form of ichthyosis congenita in Chianina cattle.

Authors:  Joana G P Jacinto; Irene M Häfliger; Inês M B Veiga; Anna Letko; Arcangelo Gentile; Cord Drögemüller
Journal:  Mol Genet Genomics       Date:  2021-10-02       Impact factor: 3.291
  2 in total

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