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28 in total

1. The molecular basis of oculocutaneous albinism type 1 (OCA1): sorting failure and degradation of mutant tyrosinases results in a lack of pigmentation.

Authors: K Toyofuku; I Wada; R A Spritz; V J Hearing
Journal: Biochem J Date: 2001-04-15 Impact factor: 3.857

2. Next-generation DNA re-sequencing identifies common variants of TYR and HLA-A that modulate the risk of generalized vitiligo via antigen presentation.

Authors: Ying Jin; Tracey Ferrara; Katherine Gowan; Cherie Holcomb; Melinda Rastrou; Henry A Erlich; Pamela R Fain; Richard A Spritz
Journal: J Invest Dermatol Date: 2012-03-08 Impact factor: 8.551

Review 3. Multiple hits during early embryonic development: digenic diseases and holoprosencephaly.

Authors: Jeffrey E Ming; Maximilian Muenke
Journal: Am J Hum Genet Date: 2002-10-22 Impact factor: 11.025

4. An MboI polymorphism at codon 192 of the human tyrosinase gene is present in Asians and Afrocaribbeans.

Authors: J D Johnston; A F Winder; L H Breimer
Journal: Nucleic Acids Res Date: 1992-03-25 Impact factor: 16.971

5. A single base insertion in the putative transmembrane domain of the tyrosinase gene as a cause for tyrosinase-negative oculocutaneous albinism.

Authors: C D Chintamaneni; R Halaban; Y Kobayashi; C J Witkop; B S Kwon
Journal: Proc Natl Acad Sci U S A Date: 1991-06-15 Impact factor: 11.205

6. A nonsense mutation in the tyrosinase gene of Afghan patients with tyrosinase negative (type IA) oculocutaneous albinism.

Authors: L B Giebel; M A Musarella; R A Spritz
Journal: J Med Genet Date: 1991-07 Impact factor: 6.318

10. A melanocyte-specific gene, Pmel 17, maps near the silver coat color locus on mouse chromosome 10 and is in a syntenic region on human chromosome 12.

Authors: B S Kwon; C Chintamaneni; C A Kozak; N G Copeland; D J Gilbert; N Jenkins; D Barton; U Francke; Y Kobayashi; K K Kim
Journal: Proc Natl Acad Sci U S A Date: 1991-10-15 Impact factor: 11.205

Detection of mutations in the tyrosinase gene in a patient with type IA oculocutaneous albinism.