Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1-4 genes and practical aspects.
Rooryck
Caroline
C
Morice-Picard
Fanny
F
Elçioglu
Nursel H
NH
Lacombe
Didier
D
Taieb
Alain
A
Arveiler
Benoît
B
D016115:Albinism, Oculocutaneous / Q000175:diagnosis / Q000235:genetics; D000951:Antigens, Neoplasm / Q000235:genetics; D006801:Humans; D008562:Membrane Glycoproteins / Q000235:genetics; D026901:Membrane Transport Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D014442:Monophenol Monooxygenase / Q000235:genetics; D009154:Mutation; D010088:Oxidoreductases / Q000235:genetics
D000951:Antigens, Neoplasm; D008562:Membrane Glycoproteins; D026901:Membrane Transport Proteins; C489600:OCA2 protein, human; C510061:SLC45A2 protein, human; D010088:Oxidoreductases; C489799:TYRP1 protein, human; D014442:Monophenol Monooxygenase