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Article

Maternal Inheritance of a Recessive RBP4 Defect in Canine Congenital Eye Disease.

Cell reports - 29 May 2018

Kaukonen Maria, Woods Sean, Ahonen Saija, Lemberg Seppo, Hellman Maarit, Hytönen Marjo K, Permi Perttu, Glaser Tom, Lohi Hannes

Abstract excerpt

Maternally skewed transmission of traits has been associated with genomic imprinting and oocyte-derived mRNA. We report canine congenital eye malformations, caused by an amino acid deletion (K12del) near the N terminus of retinol-binding protein (RBP4). The disease is only expressed when both dam and offspring are deletion homozygotes. RBP carries vitamin A (retinol) from hepatic stores to peripheral tissues,...

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Identifiers

PMID: 29847795
DOI: 10.1016/j.celrep.2018.04.118
PMCID: PMC6546432

Genes

RBP4

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Maternal Inheritance of a Recessive RBP4 Defect in Canine Congenital Eye Disease.PMID 29847795Read ↗

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