Identification of a homozygous mutation of SLC24A5 (OCA6) in two patients with oculocutaneous albinism from French Guiana.
Dermatology, Rosemon Hospital, Cayenne, French Guiana.
Antoine
A
Bertolotti
Genetics, University Hospital Center, Bordeaux, France.
Eulalie
E
Lasseaux
Genetics, University Hospital Center, Bordeaux, France.
Claudio
C
Plaisant
Genetics, University Hospital Center, Bordeaux, France.
Aurelien
A
Trimouille
Genetics, University Hospital Center, Bordeaux, France.
Fanny
F
Morice-Picard
Genetics, University Hospital Center, Bordeaux, France.
Caroline
C
Rooryck
Genetics, University Hospital Center, Bordeaux, France.
Didier
D
Lacombe
Dermatology, Rosemon Hospital, Cayenne, French Guiana.
Pierre
P
Couppie
Genetics, University Hospital Center, Bordeaux, France.
Benoît
B
Arveiler
D000368:Aged; D016115:Albinism, Oculocutaneous / Q000235:genetics*; D017920:Antiporters / Q000235:genetics*; D017124:Conserved Sequence; D005260:Female; D005616:French Guiana; D020022:Genetic Predisposition to Disease; D006720:Homozygote; D006801:Humans; D009154:Mutation / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D055815:Young Adult
D017920:Antiporters; C506584:SLC24A5 protein, human