Distribution of the Warmblood Fragile Foal Syndrome Type 1 Mutation (PLOD1 c.2032G>A) in Different Horse Breeds from Europe and the United States

Warmblood fragile foal syndrome (WFFS) is an autosomal recessive disorder caused by a single nucleotide variant in the procollagen-lysine-2-oxoglutarate-5-dioxygenase 1 gene (PLOD1:c.2032G>A, p.Gly678Arg). Homozygosity for the PLOD1 variant causes an Ehler-Danlos-like syndrome, which has to date...

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Detalhes bibliográficos
Publicado no:Genes (Basel)
Main Authors: Reiter, Simone, Wallner, Barbara, Brem, Gottfried, Haring, Elisabeth, Hoelzle, Ludwig, Stefaniuk-Szmukier, Monika, Długosz, Bogusława, Piórkowska, Katarzyna, Ropka-Molik, Katarzyna, Malvick, Julia, Penedo, Maria Cecilia T., Bellone, Rebecca R.
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2020
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7766603/
https://ncbi.nlm.nih.gov/pubmed/33353040
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes11121518
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