Implementation of an optimized strategy for genetic testing of the Chinese patients with oculocutaneous albinism

Gong, 1994, Study on genetic epidemiology of albinism, Yi Chuan Xue Bao, 21, 169 Li, 2006, Mutational data integration in gene-oriented files of Hermansky-Pudlak syndrome database, Hum Mutat, 27, 402, 10.1002/humu.20309 Wei, 2010, A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism, J Invest Dermatol, 130, 716, 10.1038/jid.2009.339 King, 2003, Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype, Hum Genet, 113, 502, 10.1007/s00439-003-0998-1 Huizing, 2002, Disorders of vesicles of lysosomal lineage: the Hermansky-Pudlak syndromes, Curr Mol Med, 2, 451, 10.2174/1566524023362357 He, 2007, China Genetic Counseling Network (CGCN): a website on genetic counseling and genetic education, Hereditas (Beijing), 29, 381, 10.1360/yc-007-0381 Wei, 2009, The first case report of a Chinese Hermansky-Pudlak syndrome patient with a novel mutation on HPS1 gene, J Dermatol Sci, 56, 130, 10.1016/j.jdermsci.2009.07.007 Inagaki, 2004, Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan, Am J Hum Genet, 74, 466, 10.1086/382195 Hutton, 2008, Comprehensive analysis of oculocutaneous albinism among non-Hispanic Caucasians shows that OCA1 is the most prevalent OCA type, J Invest Dermatol, 128, 2442, 10.1038/jid.2008.109 Suzuki, 2003, High frequency of the Ala481Thr mutation of the P gene in the Japanese population, Am J Med Genet, 118A, 402, 10.1002/ajmg.a.20044 Sviderskaya, 1997, Complementation of hypopigmentation in p-mutant (pink-eyed dilution) mouse melanocytes by normal human P cDNA, and defective complementation by OCA2 mutant sequences, J Invest Dermatol, 108, 30, 10.1111/1523-1747.ep12285621 Kato, 2003, A novel P gene missense mutation in a Japanese patient with oculocutaneous albinism type II (OCA2), J Dermatol Sci, 31, 189, 10.1016/S0923-1811(03)00005-7 Suzuki, 2008, Recent advances in genetic analyses of oculocutaneous albinism types 2 and 4, J Dermatol Sci, 51, 1, 10.1016/j.jdermsci.2007.12.008 Grønskov, 2009, Birth prevalence and mutation spectrum in Danish patients with autosomal recessive albinism, Invest Ophthalmol Vis Sci, 50, 1058, 10.1167/iovs.08-2639 Sturm, 2009, Molecular genetics of human pigmentation diversity, Hum Mol Genet, 18, R9, 10.1093/hmg/ddp003 Ito, 2011, Human hair melanins: what we have learned and have not learned from mouse coat color pigmentation, Pigment Cell Melanoma Res, 24, 63, 10.1111/j.1755-148X.2010.00755.x Stokowski, 2007, A genomewide association study of skin pigmentation in a South Asian population, Am J Hum Genet, 81, 1119, 10.1086/522235 Yuasa, 2007, OCA2 481Thr, a hypofunctional allele in pigmentation, is characteristic of northeastern Asian populations, J Hum Genet, 52, 690, 10.1007/s10038-007-0167-9