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Article

A missense mutation in AGTPBP1 was identified in sheep with a lower motor neuron disease.

Heredity - 1 Sept 2012

Zhao X, Onteru S K, Dittmer K E, Parton K, Blair H T, Rothschild M F, Garrick D J

Abstract excerpt

A type of lower motor neuron (LMN) disease inherited as autosomal recessive in Romney sheep was characterized with normal appearance at birth, but with progressive weakness and tetraparesis after the first week of life. Here, we carried out genome-wide homozygosity mapping using Illumina Ovine SNP50 BeadChips on lambs descended from one carrier ram, including 19 sheep diagnosed as affected and 11 of their parents...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 22588130
DOI: 10.1038/hdy.2012.23
PMCID: PMC3752038

Genes

AGTPBP1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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