| Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous albinism (OCA1). Spritz R.A., Oh J., Fukai K., Holmes S.A., Ho L., Chitayat D., France T.D., Musarella M.A., Orlow S.J., Schnur R.E. et al.
Hum. Mutat. 10:171-174(1997) · UniProtKB (1) |
| Type I oculocutaneous albinism associated with a full-length deletion of the tyrosinase gene. Schnur R.E., Sellinger B.T., Holmes S.A., Wick P.A., Tatsumura Y.O., Spritz R.A.
J. Invest. Dermatol. 106:1137-1140(1996) · Mapped (3) |
| Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel. Gershoni-Baruch R., Rosenmann A., Droetto S., Holmes S.A., Tripathi R.K., Spritz R.A.
Am. J. Hum. Genet. 54:586-594(1994) · UniProtKB (1) |
| Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinism (OCA). Tripathi R.K., Bundey S., Musarella M.A., Droetto S., Strunk K.M., Holmes S.A., Spritz R.A.
Am. J. Hum. Genet. 53:1173-1179(1993) · UniProtKB (1) |
| Frequent intragenic deletion of the P gene in Tanzanian patients with type II oculocutaneous albinism (OCA2). Spritz R.A., Fukai K., Holmes S.A., Luande J.
Am. J. Hum. Genet. 56:1320-1323(1995) · UniProtKB (1) |
| Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism. Fukai K., Holmes S.A., Lucchese N.J., Siu V.M., Weleber R.G., Schnur R.E., Spritz R.A.
Nat. Genet. 9:92-95(1995) · Mapped (3) |
| A recurrent deletion in the KIT (mast/stem cell growth factor receptor) proto-oncogene is a frequent cause of human piebaldism. Spritz R.A., Holmes S.A., Berg S.Z., Nordlund J.J., Fukai K.
Hum. Mol. Genet. 2:1499-1500(1993) · UniProtKB (1) |
| Novel mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism. Spritz R.A., Holmes S.A., Itin P., Kuester W.
J. Invest. Dermatol. 101:22-25(1993) · UniProtKB (1) |
| Novel mutations and deletions of the KIT (steel factor receptor) gene in human piebaldism. Ezoe K., Holmes S.A., Ho L., Bennett C.P., Bolognia J.L., Brueton L., Burn J., Falabella R., Gatto E.M., Ishii N.
Am. J. Hum. Genet. 56:58-66(1995) · Mapped (4) |
| Dominant negative and loss of function mutations of the c-kit (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism. Spritz R.A., Giebel L.B., Holmes S.A.
Am. J. Hum. Genet. 50:261-269(1992) · UniProtKB (1) |
| Organization and nucleotide sequence of the human KIT (mast/stem cell growth factor receptor) proto-oncogene. Giebel L.B., Strunk K.M., Holmes S.A., Spritz R.A.
Oncogene 7:2207-2217(1992) · UniProtKB (1) |
