Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Albinism, oculocutaneous, type IV

OMIM:606574
Mode of inheritance:Autosomal recessive
Disease classification:Endocrine, nutritional and metabolic disease


Mutations

Gene SymbolSLC45A2
Reference transcriptNM_016180.3
DNA Changec.113A>G
A.A. Changep.His38Arg
Exon/Intronexon 1
Mutation Typesubstitution
ReferenceKonno T, Abe Y, Kawaguchi M, Storm K, Biervliet M, Courtens W, Kono M, Tomita Y, Suzuki T.Oculocutaneous albinism type IV: A boy of Moroccan descent with a novel mutation in SLC45A2.
Am J Med Genet A. 2009 Aug;149A(8):1773-6.