Lethal chondrodysplasia in a family of Holstein cattle is associated with a de novo splice site variant of COL2A1 - Wikidata - wikimedia - TriplyDB

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

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

http://www.wikidata.org/entity/Q27304755

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A de novo missense mutation of FGFR2 causes facial dysplasia syndrome in Holstein cattle.Germline mutation within COL2A1 associated with lethal chondrodysplasia in a polled Holstein family A de novo germline mutation of DLX3 in a Brown Swiss calf with tricho-dento-osseus-like syndrome.

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

http://www.wikidata.org/entity/Q27304755

description

2016 nî lūn-bûn

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2016 թուականի Յունիսին հրատարակուած գիտական յօդուած

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2016 թվականի հունիսին հրատարակված գիտական հոդված

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2016年の論文

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2016年論文

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2016年論文

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2016年論文

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2016年論文

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2016年論文

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2016年论文

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name

Lethal chondrodysplasia in a f ...... splice site variant of COL2A1

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Lethal chondrodysplasia in a f ...... splice site variant of COL2A1

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Lethal chondrodysplasia in a f ...... splice site variant of COL2A1

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Lethal chondrodysplasia in a f ...... splice site variant of COL2A1

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Lethal chondrodysplasia in a f ...... splice site variant of COL2A1

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BMC Veterinary Research

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Lethal chondrodysplasia in a f ...... splice site variant of COL2A1

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Fiona Menzi

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Vidhya Jagannathan

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P2860

Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis

A de novo germline mutation in MYH7 causes a progressive dominant myopathy in pigs

OsiriX: an open-source software for navigating in multidimensional DICOM images.

Germ line mosaicism.

Mutation discovery for Mendelian traits in non-laboratory animals: a review of achievements up to 2012.

Mosaicism of Solid Gold supports the causality of a noncoding A-to-G transition in the determinism of the callipyge phenotype.

Hairless Streaks in Cattle Implicate TSR2 in Early Hair Follicle Formation.

Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies.

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10.1186/S12917-016-0739-Z

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1

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Jørgen S. Agerholm

Cord Drögemüller

Fintan J McEvoy

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1021047278

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