SLC24A5 mutations are associated with non-syndromic oculocutaneous albinism.

[1]  A. Wei,et al.  Exome sequencing identifies SLC24A5 as a candidate gene for nonsyndromic oculocutaneous albinism. , 2013, The Journal of investigative dermatology.

[2]  Z. Ahmed,et al.  OCA5, a novel locus for non‐syndromic oculocutaneous albinism, maps to chromosome 4q24 , 2013, Clinical genetics.

[3]  R. Kelsh,et al.  Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism. , 2013, American journal of human genetics.

[4]  Wei Li,et al.  Hermansky–Pudlak syndrome: pigmentary and non‐pigmentary defects and their pathogenesis , 2013, Pigment cell & melanoma research.

[5]  K. Ray,et al.  Molecular basis of albinism in India: evaluation of seven potential candidate genes and some new findings. , 2012, Gene.

[6]  T. Rosenberg,et al.  Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism. , 2009, Investigative ophthalmology & visual science.

[7]  R. Spritz,et al.  Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type. , 2008, The Journal of investigative dermatology.

[8]  D. Rice,et al.  Ocular Albinism and Hypopigmentation Defects in Slc24a5—I— Mice , 2008, Veterinary pathology.

[9]  T. Dadd,et al.  SLC24A5 Encodes a trans-Golgi Network Protein with Potassium-dependent Sodium-Calcium Exchange Activity That Regulates Human Epidermal Melanogenesis* , 2008, Journal of Biological Chemistry.

[10]  D. Cox,et al.  A genomewide association study of skin pigmentation in a South Asian population. , 2007, American journal of human genetics.

[11]  Keith C. Cheng,et al.  SLC24A5, a Putative Cation Exchanger, Affects Pigmentation in Zebrafish and Humans , 2005, Science.

[12]  Tamio Suzuki,et al.  Genetics of pigmentary disorders , 2004, American journal of medical genetics. Part C, Seminars in medical genetics.

[13]  Tamio Suzuki,et al.  Characterization of the human RAB38 and RAB7 genes: exclusion of new major pathological loci for Japanese OCA. , 2003, Journal of dermatological science.

[14]  C. Witkop Albinism: hematologic-storage disease, susceptibility to skin cancer, and optic neuronal defects shared in all types of oculocutaneous and ocular albinism. , 1979, The Alabama journal of medical sciences.