A COL2A1 de novo variant in a Holstein bulldog calf-Reference-Cited by-同舟云学术

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A COL2A1 de novo variant in a Holstein bulldog calf

Published:2018-10-31 Issue:1 Volume:50 Page:113-114
ISSN:0268-9146
Container-title:Animal Genetics
language:en
Short-container-title:Anim Genet

Author:

Häfliger Irene Monika¹,Behn Holger²,Freick Markus³⁴,Jagannathan Vidhya¹^ORCID,Drögemüller Cord¹^ORCID

Affiliation:

1. Institute of Genetics; Vetsuisse Faculty; University of Bern; 3001 Bern Switzerland

2. Landesuntersuchungsanstalt für das Gesundheits- und Veterinärwesen Sachsen; 04158 Leipzig Germany

3. Veterinary Practice Zettlitz; 09306 Zettlitz Germany

4. Faculty for Agriculture/Environment/Chemistry; HTW Dresden - University of Applied Sciences; 01326 Dresden Germany

Publisher

Wiley

Subject

Genetics,Animal Science and Zoology,General Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/age.12735/fullpdf

Reference7 articles.

1. Familial Chondrodysplasia in Holstein Calves

2. Whole-genome sequencing of 234 bulls facilitates mapping of monogenic and complex traits in cattle

3. Lethal chondrodysplasia in a family of Holstein cattle is associated with a de novo splice site variant of COL2A1

4. Rapid Discovery of De Novo Deleterious Mutations in Cattle Enhances the Value of Livestock as Model Species

5. Germline mutation within COL2A1 associated with lethal chondrodysplasia in a polled Holstein family

Cited by 7 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A bovine model of rhizomelic chondrodysplasia punctata caused by a deep intronic splicing mutation in theGNPATgene;2024-06-16

2. Naturally occurring genetic diseases caused by de novo variants in domestic animals;Animal Genetics;2024-02-07

3. Genomic diversity and signatures of selection in meat and fancy rabbit breeds based on high-density marker data;Genetics Selection Evolution;2022-01-21

4. A 6.7 kb deletion in the COL2A1 gene in a Holstein calf with achondrogenesis type II and perosomus elumbis;Animal Genetics;2020-12-14

5. A large deletion in the COL2A1 gene expands the spectrum of pathogenic variants causing bulldog calf syndrome in cattle;Acta Veterinaria Scandinavica;2020-09-07

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