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Pointed albinism characterises a 'mask' on the face and darkened paws and tail.
12 working days
Swab, Blood EDTA, Blood Heparin, Semen, Tissue
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Pointed albinism characterises a ‘mask’ on the face and darkened paws and tail. The mutation is temperature-sensitive, whereby only pigment is produced at the cooler extremities of the body. The coloration is caused by a mutation in the TYR gene.
Clinical features are darkened extremities of the body.
Pubmed ID: 15771720
Omia ID: 202