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Article

A form of albinism in cattle is caused by a tyrosinase frameshift mutation.

Mammalian genome : official journal of the International Mammalian Genome Society - 1 Jan 2004

Schmutz Sheila M, Berryere Tom G, Ciobanu Daniel C, Mileham Alan J, Schmidtz Barbara H, Fredholm Merete

Abstract excerpt

We used PCR amplification of cDNA prepared from skin biopsies to determine the full-length protein-coding sequence of tyrosinase ( TYR) in cattle of several coat colors. An insertion of a cytosine was detected in an albino Braunvieh calf, which resulted in a frameshift which caused a premature stop codon at residue 316. This insertion was found in the homozygous state in this calf and the genomic DNA of two...

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Identifiers

PMID: 14727143
DOI: 10.1007/s00335-002-2249-5

Genes

TYR

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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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