Albinism, oculocutaneous, type IV
OMIM:606574Mode of inheritance:Autosomal recessive
Disease classification:Endocrine, nutritional and metabolic disease
Mutations
| Gene Symbol | SLC45A2 |
|---|---|
| Reference transcript | NM_016180.3 |
| DNA Change | c.113A>G |
| A.A. Change | p.His38Arg |
| Exon/Intron | exon 1 |
| Mutation Type | substitution |
| Reference | Konno 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. |