Condition: Oculocutaneous Albinism, Type IV


rs121912619 in SLC45A2 gene and Oculocutaneous Albinism, Type IV PMID 23504663 2013 DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.

PMID 14722913 2004 Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4.

PMID 15656822 2005 A Korean case of oculocutaneous albinism type IV caused by a D157N mutation in the MATP gene.

PMID 19865097 2010 A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism.

PMID 14961451 2004 Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan.

PMID 11574907 2001 Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4.

PMID 17768386 2007 SLC45A2 variations in Indian oculocutaneous albinism patients.

PMID 15656822 2005 A Korean case of oculocutaneous albinism type IV caused by a D157N mutation in the MATP gene.

PMID 26818737 2016 Homozygosity mapping in albinism patients using a novel panel of 13 STR markers inside the nonsyndromic OCA genes: introducing 5 novel mutations.

PMID 19865097 2010 The p.D160H allele accounts for 55.6% of the mutational SLC45A2 alleles in Chinese OCA4 patients.

PMID 15565285 2005 Meningococccal meningitis and complement component 6 deficiency associated with oculocutaneous albinism.

PMID 24845642 2014 Relationship between foveal cone specialization and pit morphology in albinism.