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Short communication: Prevalence of deleterious variants causing recessive disorders in Italian Chianina, Marchigiana and Romagnola cattle

Autor: Jacinto, J G P, Sbarra, F, Quaglia, A, Gentile, A, Drögemüller, C

Publikováno v: Pontes Jacinto, Joana Goncalves; Sbarra, F; Quaglia, A; Gentile, A; Drögemüller, C (2022). Short communication: Prevalence of deleterious variants causing recessive disorders in Italian Chianina, Marchigiana and Romagnola cattle. Animal : an international journal of animal bioscience, 16(7), p. 100569. Elsevier 10.1016/j.animal.2022.100569

In the last two decades, the molecular cause of six monogenic autosomal recessive disorders has been identified in native Italian beef cattle: two different ATP2A1 variants for the pseudomyotonia congenita, the first in Chianina and Romagnola (PMT1)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e22859be3380858080fa5f421dd25058
https://boris.unibe.ch/170824/1/1-s2.0-S1751731122001203-main.pdf

Prevalence of known recessive disease alleles in Italian beef cattle

Autor: Jacinto J. G. P., Gentile A., Sbarra F., Drögemüller C.

In the last decade, five different genetic recessive disorders with known molecular causes were reported in Chianina, Marchigiana and Romagnola cattle. Targeted genotyping of the following pathogenic variants affecting five different genes became pos

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______4094::259ff37f5719137e2dc9f8470cc68bc6
http://hdl.handle.net/11585/833580

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