Article
Oculocutaneous albinism type IV: A boy of Moroccan descent with a novel mutation in SLC45A2.
American journal of medical genetics. Part A - 1 Aug 2009
Konno Takayuki, Abe Yuko, Kawaguchi Masakazu, Storm Katrien, Biervliet Martine, Courtens Winnie, Kono Michihiro, Tomita Yasushi, Suzuki Tamio
Abstract excerpt
Oculocutaneous albinism type IV (OCA4 [MIM606574]) caused by mutations of the SLC45A2 gene is an autosomal recessive disorder of pigmentation characterized by reduced biosynthesis of melanin pigment in the skin, hair, and eye. We had the opportunity to examine a Belgian boy of Moroccan descent with clinically severe OCA and screened the mutation in his SLC45A2 gene. Sequencing of exon 1, of which the PCR product...
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