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References
These sources were used to develop the Genetics Home Reference
gene summary
on the
TYR
gene.
Entrez
Gene
Gene Review: Oculocutaneous Albinism Type
1
King RA, Pietsch J, Fryer JP, Savage S, Brott MJ, Russell-Eggitt I, Summers CG, Oetting WS. Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype. Hum Genet. 2003 Nov;113(6):502-13. Epub 2003 Sep 10.
PubMed citation
Murisier F, Beermann F. Genetics of pigment cells: lessons from the tyrosinase gene family. Histol Histopathol. 2006 May;21(5):567-78. Review.
PubMed citation
Oetting WS, Fryer JP, Shriram S, King RA. Oculocutaneous albinism type 1: the last 100 years. Pigment Cell Res. 2003 Jun;16(3):307-11. Review.
PubMed citation
Oetting WS. The tyrosinase gene and oculocutaneous albinism type 1 (OCA1): A model for understanding the molecular biology of melanin formation. Pigment Cell Res. 2000 Oct;13(5):320-5. Review.
PubMed citation
Opitz S, Käsmann-Kellner B, Kaufmann M, Schwinger E, Zühlke C. Detection of 53 novel DNA variations within the tyrosinase gene and accumulation of mutations in 17 patients with albinism. Hum Mutat. 2004 Jun;23(6):630-1.
PubMed citation
Reviewed: March 2007
Published: May 20, 2013