一只患有成骨不全的罗威纳犬COL1A2基因发生了一个从头的框内重复。 - Suppr

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A de novo in-frame duplication in the COL1A2 gene in a Lagotto Romagnolo dog with osteogenesis imperfecta.

作者信息

Letko Anna, Zdora Isabel, Hitzler Valerie, Jagannathan Vidhya, Beineke Andreas, Möhrke Carola, Drögemüller Cord

机构信息

Institute of Genetics, Vetsuisse Faculty, University of Bern, Bern, 3001, Switzerland.

Institute for Pathology, University of Veterinary Medicine Hannover, Hannover, 30559, Germany.

出版信息

Anim Genet. 2019 Dec;50(6):786-787. doi: 10.1111/age.12843. Epub 2019 Aug 29.

DOI:10.1111/age.12843

PMID:31468557

Abstract

摘要

相似文献

A de novo in-frame duplication in the COL1A2 gene in a Lagotto Romagnolo dog with osteogenesis imperfecta.

Anim Genet. 2019 Dec;50(6):786-787. doi: 10.1111/age.12843. Epub 2019 Aug 29.

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Clin Chim Acta. 2016 Sep 1;460:33-9. doi: 10.1016/j.cca.2016.06.011. Epub 2016 Jun 14.

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[On osteogenesis imperfecta. (Studies of some cases observed in dogs)].

Acta Med Vet (Napoli). 1968 Jan-Apr;14(1):79-109.

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A de novo in-frame duplication in the COL1A2 gene in a Lagotto Romagnolo dog with osteogenesis imperfecta.

作者信息

Letko Anna, Zdora Isabel, Hitzler Valerie, Jagannathan Vidhya, Beineke Andreas, Möhrke Carola, Drögemüller Cord

机构信息

Institute of Genetics, Vetsuisse Faculty, University of Bern, Bern, 3001, Switzerland.

Institute for Pathology, University of Veterinary Medicine Hannover, Hannover, 30559, Germany.

出版信息

Anim Genet. 2019 Dec;50(6):786-787. doi: 10.1111/age.12843. Epub 2019 Aug 29.

DOI:10.1111/age.12843

PMID:31468557

Abstract

摘要

相似文献

A de novo in-frame duplication in the COL1A2 gene in a Lagotto Romagnolo dog with osteogenesis imperfecta.

Anim Genet. 2019 Dec;50(6):786-787. doi: 10.1111/age.12843. Epub 2019 Aug 29.

Identification of a Candidate Mutation in the COL1A2 Gene of a Chow Chow With Osteogenesis Imperfecta.

J Hered. 2018 Mar 16;109(3):308-314. doi: 10.1093/jhered/esx074.

Osteogenesis imperfecta in two litters of dachshunds.

Vet Pathol. 2003 Sep;40(5):530-9. doi: 10.1354/vp.40-5-530.

Two novel distinct COL1A2 mutations highlight the complexity of genotype-phenotype correlations in osteogenesis imperfecta and related connective tissue disorders.

Eur J Med Genet. 2013 Dec;56(12):669-73. doi: 10.1016/j.ejmg.2013.10.002. Epub 2013 Oct 17.

Osteogenesis imperfecta due to a possible new COL1A2 mutation; the importance of phenotyping and diagnostic challenges.

J Musculoskelet Neuronal Interact. 2016 Jun 1;16(2):168-71.

A cryptic balanced translocation involving COL1A2 gene disruption cause a rare type of osteogenesis imperfecta.

Clin Chim Acta. 2016 Sep 1;460:33-9. doi: 10.1016/j.cca.2016.06.011. Epub 2016 Jun 14.

Osteogenesis imperfecta in dachshunds.

Vet Rec. 2013 Mar 23;172(12):319. doi: 10.1136/vr.f1823.

Osteogenesis imperfecta Type IV: a newly identified variant at position c.560 (G > T; p.Gly187Val) in the COL1A2 gene.

Pan Afr Med J. 2017 Jul 14;27:198. doi: 10.11604/pamj.2017.27.198.12295. eCollection 2017.

Novel COL1A1 Mutation c.3290G>T Associated With Severe Form of Osteogenesis Imperfecta in a Fetus.

Pediatr Dev Pathol. 2017 Sep-Oct;20(5):455-459. doi: 10.1177/1093526616686903. Epub 2017 Jan 25.

[On osteogenesis imperfecta. (Studies of some cases observed in dogs)].

Acta Med Vet (Napoli). 1968 Jan-Apr;14(1):79-109.

引用本文的文献

Nonsense Variant in a Lagotto Romagnolo Family with Polycystic Kidney Disease.

Genes (Basel). 2023 Jun 1;14(6):1210. doi: 10.3390/genes14061210.

Severe osteogenesis imperfecta caused by mutation in a cat.

J Vet Diagn Invest. 2022 May;34(3):558-563. doi: 10.1177/10406387221081227. Epub 2022 Feb 15.

Splice Defect in Cane Corso Dogs with Dental-Skeletal-Retinal Anomaly (DSRA).

Genes (Basel). 2021 Sep 25;12(10):1497. doi: 10.3390/genes12101497.

Osteogenesis Imperfecta in Two Finnish Lapphund Puppies.

Vet Med (Auckl). 2021 Jun 17;12:177-185. doi: 10.2147/VMRR.S308418. eCollection 2021.

A De Novo Mutation in in a Holstein Calf with Osteogenesis Imperfecta Type II.

Animals (Basel). 2021 Feb 20;11(2):561. doi: 10.3390/ani11020561.

A comprehensive biomedical variant catalogue based on whole genome sequences of 582 dogs and eight wolves.

Anim Genet. 2019 Dec;50(6):695-704. doi: 10.1111/age.12834. Epub 2019 Sep 5.