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

The aim of this study was to characterize the phenotype and to identify the genetic etiology of a syndromic form of ichthyosis congenita (IC) observed in Italian Chianina cattle and to estimate the prevalence of the deleterious allele in the population. Sporadic occurrence of different forms of icht...

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Detalles Bibliográficos
Autores principales: Jacinto, Joana G. P., Häfliger, Irene M., Veiga, Inês M. B., Letko, Anna, Gentile, Arcangelo, Drögemüller, Cord
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2021
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8550120/
https://www.ncbi.nlm.nih.gov/pubmed/34599683
http://dx.doi.org/10.1007/s00438-021-01824-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8550120/
https://www.ncbi.nlm.nih.gov/pubmed/34599683
http://dx.doi.org/10.1007/s00438-021-01824-8

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