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Article

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

BMC genomics - 10 Oct 2017

Reinartz Sina, Mohwinkel Hartmut, Sürie Christian, Hellige Maren, Feige Karsten, Eikelberg Deborah, Beineke Andreas, Metzger Julia, Distl Ottmar

Abstract excerpt

BACKGROUND: The bulldog calf syndrome is a lethal form of the inherited congenital chondrodysplasias. Among the progeny of the polled Holstein bull Energy P cases of lethal chondrodysplasia were observed. Pedigrees of the cases and the frequency of 3/8 cases among the offspring of Energy P at our teaching and experimental farm Ruthe (LuFG Ruthe) supported the assumption of a germline mutation with a mosaic of...

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Cattle
Cattle Diseases
Collagen Type II
Genomics
Germ-Line Mutation

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PMID: 29017490
DOI: 10.1186/s12864-017-4153-0
PMCID: PMC5633883

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Germline mutation within COL2A1 associated with lethal chondrodysplasia in a polled Holstein family.PMID 29017490Read ↗

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