-
1
-
-
29144479725
-
Melanocyte biology
-
Bolognia JL, Jorizzo JL, Rapini RP (eds) Mosby, Edinburgh
-
Bolognia JL, Orlow SJ (2003) Melanocyte biology. In: Bolognia JL, Jorizzo JL, Rapini RP (eds) Dermatology. 1. Aufl. Mosby, Edinburgh, S 953ff
-
(2003)
Dermatology. 1. Aufl.
-
-
Bolognia, J.L.1
Orlow, S.J.2
-
2
-
-
0002267933
-
-
Garrod AE (1908) Inborn errors of metabolism. Lecture II. Lancet 2:73-79
-
(1908)
Lancet
, vol.2
, pp. 73
-
-
Garrod1
-
3
-
-
0000490164
-
-
Käsmann-Kellner B, Ruprecht KW (1999) Albinismus Klassifikation und klinisches Spektrum. Z Prakt Augenheilk 20: 189-203
-
(1999)
Z Prakt Augenheilk
, vol.20
, pp. 189
-
-
Käsmann-Kellner1
-
4
-
-
0027531665
-
-
Oetting WS, King RA (1993) Molecular basis of type I (tyrosinase related) oculocutaneous albinism: mutations and polymorphisms of the human tyrosinase gene. Hum Mutat 2:1-6
-
(1993)
Hum Mutat
, vol.2
, pp. 1
-
-
Oetting1
-
5
-
-
4544275288
-
Detection of 53 novel DNA variations within the tyrosinase gene and accumulation of mutations in 17 patients with albinism
-
Opitz S, Käsmann-Kellner B, Kaufmann M et al. (2004) Detection of 53 novel DNA variations within the tyrosinase gene and accumulation of mutations in 17 patients with albinism. Hum Mutat, Mutation in Brief #719
-
(2004)
Hum Mutat, Mutation in Brief #719
-
-
Opitz, S.1
Käsmann-Kellner, B.2
Kaufmann, M.3
-
6
-
-
34548524666
-
-
Opitz S, Zühlke Ch (2002) Albinismus Leben ohne Melanin. BIOForum 10:672-674
-
(2002)
BIOForum
, vol.10
, pp. 672
-
-
Opitz1
-
7
-
-
0002146569
-
The biogenesis of melanosomes
-
Nordlund JJ, Boissy RE, Hearing VJ, King RA, Ortonne JP (eds) Oxford University Press, New York
-
Orlow SJ (1998) The biogenesis of melanosomes. In: Nordlund JJ, Boissy RE, Hearing VJ, King RA, Ortonne JP (eds) The pigmentary system. Physiology and pathophysiology. 1. Aufl. Oxford University Press, New York, p 103
-
(1998)
The Pigmentary System. Physiology and Pathophysiology. 1. Aufl.
, pp. 103
-
-
Orlow, S.J.1
-
8
-
-
0032881771
-
-
Passmore LA, Käsmann-Kellner B, Weber BHW (1999) Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population. Hum Genet 105:200-210
-
(1999)
Hum Genet
, vol.105
, pp. 200
-
-
Passmore1
-
9
-
-
0035678195
-
-
Peters S, Schraermeyer U (2001) Charakteristika und Funktionen des Melanins im retinalen Pigmentepithel. Ophthalmologe 98: 1181-1185
-
(2001)
Ophthalmologe
, vol.98
, pp. 1181
-
-
Peters1
-
10
-
-
1042299964
-
-
Rundshagen U, Zühlke Ch, Opitz S et al. (2004) Mutations in the MATP-gene in five German patients affected by oculocutaneous albinism type 4. Hum Mutat 23:106-110
-
(2004)
Hum Mutat
, vol.23
, pp. 106
-
-
Rundshagen1
-
11
-
-
0002792179
-
-
Trevor-Roper PD (1952) Marriage of two complete albinos with normally pigmented offspring. Brit J Ophthalmol 36:107-108
-
(1952)
Brit J Ophthalmol
, vol.36
, pp. 107
-
-
Trevor-Roper1
-
12
-
-
34548535536
-
-
Zühlke Ch, Dalski A, Kaufmann M et al. (2004) Molecular analysis in 163 unrelated patients with albinism: Mutations in the genes for OCA1, OCA2, OCA3, and OCA4. Eur J Hum Genet (Supp 1) 12:229
-
(2004)
Eur J Hum
, pp. 229
-
-
Zühlke1
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