-
3
-
-
0035136835
-
Leucodystrophy and oculocutaneous albinism in a child with an 11q14 deletion
-
Coupry I., Taine L., Goizet C., Soriano C., Mortemousque B., Arveiler B. Lacombe D. (2001) Leucodystrophy and oculocutaneous albinism in a child with an 11q14 deletion. Journal of Medical Genetics 38, 35 9.
-
(2001)
Journal of Medical Genetics
, vol.38
, pp. 35-9
-
-
Coupry, I.1
Taine, L.2
Goizet, C.3
Soriano, C.4
Mortemousque, B.5
Arveiler, B.6
Lacombe, D.7
-
4
-
-
0035725326
-
Alternative splicing of the tyrosinase gene transcript in normal human melanocytes and lymphocytes
-
Fryer J.P., Oetting W.S., Brott M.J. King R.A. (2001) Alternative splicing of the tyrosinase gene transcript in normal human melanocytes and lymphocytes. Journal of Investigative Dermatology 117, 1261 5.
-
(2001)
Journal of Investigative Dermatology
, vol.117
, pp. 1261-5
-
-
Fryer, J.P.1
Oetting, W.S.2
Brott, M.J.3
King, R.A.4
-
5
-
-
0028878474
-
Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism
-
Fukai K., Holmes S.A., Luncchee N.J., Siu V.M., Weleber R.G., Schnur R.E. Spritz R.A. (1995) Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism. Nature Genetics 9, 92 5.
-
(1995)
Nature Genetics
, vol.9
, pp. 92-5
-
-
Fukai, K.1
Holmes, S.A.2
Luncchee, N.J.3
Siu, V.M.4
Weleber, R.G.5
Schnur, R.E.6
Spritz, R.A.7
-
6
-
-
0017880768
-
Cytogenetics of albinism in polecats of the genus Putorius (Carnivora, Mustelidae)
-
Grafodatskii A.S., Ternovskaia Iu.G., Ternovskii D.V. Radshabli S.I. (1978) Cytogenetics of albinism in polecats of the genus Putorius (Carnivora, Mustelidae). Genetika 14, 68 71.
-
(1978)
Genetika
, vol.14
, pp. 68-71
-
-
Grafodatskii, A.S.1
Ternovskaia, I.G.2
Ternovskii, D.V.3
Radshabli, S.I.4
-
7
-
-
0034705048
-
Endoplasmic reticulum retention is a common defect associated with tyrosinase-negative albinism
-
Halaban R., Svedine S., Cheng E., Smicun Y., Aron R. Hebert D.N. (2000) Endoplasmic reticulum retention is a common defect associated with tyrosinase-negative albinism. Proceedings of the National Academy of Sciences of the United States of America 97, 5889 94.
-
(2000)
Proceedings of the National Academy of Sciences of the United States of America
, vol.97
, pp. 5889-94
-
-
Halaban, R.1
Svedine, S.2
Cheng, E.3
Smicun, Y.4
Aron, R.5
Hebert, D.N.6
-
8
-
-
33645210498
-
Albinism in the domestic cat (Felis catus) is associated with a tyrosinase (TYR) mutation
-
Imes D.L., Geary L.A., Grahn R.A. Lyons L.A. (2006) Albinism in the domestic cat (Felis catus) is associated with a tyrosinase (TYR) mutation. Animal Genetics 37, 175 8.
-
(2006)
Animal Genetics
, vol.37
, pp. 175-8
-
-
Imes, D.L.1
Geary, L.A.2
Grahn, R.A.3
Lyons, L.A.4
-
9
-
-
0033815395
-
The tyrosinase gene and oculocutaneous albinism type 1 (OCA1): A model for understanding the molecular biology of melanin formation
-
Oetting W.S. (2000) The tyrosinase gene and oculocutaneous albinism type 1 (OCA1): a model for understanding the molecular biology of melanin formation. Pigment Cell Research 13, 320 5.
-
(2000)
Pigment Cell Research
, vol.13
, pp. 320-5
-
-
Oetting, W.S.1
-
10
-
-
0028525572
-
Analysis of tyrosinase mutations associated with tyrosinase-related oculocutaneous albinism (OCA1)
-
Oetting W.S. King R.A. (1994) Analysis of tyrosinase mutations associated with tyrosinase-related oculocutaneous albinism (OCA1). Pigment Cell Research 7, 285 90.
-
(1994)
Pigment Cell Research
, vol.7
, pp. 285-90
-
-
Oetting, W.S.1
King, R.A.2
-
11
-
-
0032913013
-
Molecular basis of albinism: Mutations and polymorphisms of pigmentation genes associated with albinism
-
Oetting W.S. King R.A. (1999) Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism. Human Mutation 13, 99 115.
-
(1999)
Human Mutation
, vol.13
, pp. 99-115
-
-
Oetting, W.S.1
King, R.A.2
-
12
-
-
21444451483
-
Gene symbol: TYR. Disease: Albinism, oculocutaneous 1
-
Ray K., Chaki M. Mukhopadhyay A. (2005) Gene symbol: TYR. Disease: albinism, oculocutaneous 1. Human Genetics 116, 533.
-
(2005)
Human Genetics
, vol.116
, pp. 533
-
-
Ray, K.1
Chaki, M.2
Mukhopadhyay, A.3
-
14
-
-
25844488215
-
Tyrosinase and tyrosinase-related protein 1 alleles specify domestic cat coat color phenotypes of the albino and brown loci
-
Schmidt-Küntzel A., Eizirik E., O'Brien S.J. Menotti-Raymond M. (2005) Tyrosinase and tyrosinase-related protein 1 alleles specify domestic cat coat color phenotypes of the albino and brown loci. Journal of Heredity 96, 289 301.
-
(2005)
Journal of Heredity
, vol.96
, pp. 289-301
-
-
Schmidt-Küntzel, A.1
Eizirik, E.2
O'Brien, S.J.3
Menotti-Raymond, M.4
-
15
-
-
0347931983
-
A form of albinism in cattle is caused by a tyrosinase frameshift mutation
-
Schmutz S.M., Berryere T.G., Ciobanu D.C., Mileham A.J., Schmidtz B.H. Fredholm M. (2004) A form of albinism in cattle is caused by a tyrosinase frameshift mutation. Mammalian Genome 15, 62 7.
-
(2004)
Mammalian Genome
, vol.15
, pp. 62-7
-
-
Schmutz, S.M.1
Berryere, T.G.2
Ciobanu, D.C.3
Mileham, A.J.4
Schmidtz, B.H.5
Fredholm, M.6
-
16
-
-
0029972105
-
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. (1996) Type I oculocutaneous albinism associated with a full-length deletion of the tyrosinase gene. Journal of Investigative Dermatology 106, 1137 40.
-
(1996)
Journal of Investigative Dermatology
, vol.106
, pp. 1137-40
-
-
Schnur, R.E.1
Sellinger, B.T.2
Holmes, S.A.3
Wick, P.A.4
Tatsumura, Y.O.5
Spritz, R.A.6
|