Condition: Oculocutaneous albinism type 2


rs373224783 in MC1R gene and Oculocutaneous albinism type 2 PMID 26197705 2015 Identification and functional characterization of natural human melanocortin 1 receptor mutant alleles in Pakistani population.

rs1805009 in MC1R;TUBB3 gene and Oculocutaneous albinism type 2 PMID 26197705 2015 Identification and functional characterization of natural human melanocortin 1 receptor mutant alleles in Pakistani population.

rs121918166 in OCA2 gene and Oculocutaneous albinism type 2 PMID 10905897 2000 Oculocutaneous albinism type 2 with a P gene missense mutation in a patient with Angelman syndrome.

PMID 10671067 1998 Mutations of the human P gene associated with Type II oculocutaneous albinism (OCA2). Mutations in brief no. 205. Online.

PMID 8302318 1994 Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism.

PMID 10987646 1999 Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population.

PMID 9259203 1997 Novel mutations of the P gene in type II oculocutaneous albinism (OCA2).

PMID 10649493 2000 Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa.

PMID 17960121 2007 Mutation analysis in a family with oculocutaneous albinism manifesting in the same generation of three branches.

PMID 7762554 1995 Frequent intragenic deletion of the P gene in Tanzanian patients with type II oculocutaneous albinism (OCA2).

PMID 12876664 2003 MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2).

PMID 12727022 2003 A novel P gene missense mutation in a Japanese patient with oculocutaneous albinism type II (OCA2).

PMID 18463683 2008 Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type.

PMID 8980282 1997 Complementation of hypopigmentation in p-mutant (pink-eyed dilution) mouse melanocytes by normal human P cDNA, and defective complementation by OCA2 mutant sequences.

PMID 12713581 2003 Six novel P gene mutations and oculocutaneous albinism type 2 frequency in Japanese albino patients.

PMID 26165494 2015 Prenatal genotyping of four common oculocutaneous albinism genes in 51 Chinese families.

PMID 26474496 2016 Evidence of macular pigment in the central macula in albinism.

PMID 23504663 2013 DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.

PMID 28451379 2017 Retrospective analysis in oculocutaneous albinism patients for the 2.7 kb deletion in the OCA2 gene revealed a co-segregation of the controversial variant, p.R305W.

PMID 27231233 2016 A melanosomal two-pore sodium channel regulates pigmentation.

PMID 15712365 2005 P gene mutations associated with oculocutaneous albinism type II (OCA2).

PMID 17385796 2007 Prenatal diagnosis of oculocutaneous albinism type II and novel mutations in two Chinese families.

PMID 25513726 2014 An intracellular anion channel critical for pigmentation.

PMID 7874125 1994 Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2).

PMID 27468418 2016 Importance of nonsynonymous OCA2 variants in human eye color prediction.

PMID 20861488 2011 Molecular and clinical characterization of albinism in a large cohort of Italian patients.

PMID 23744323 2013 [A de novo mutation of P gene causes oculocutaneous albinism type 2 with prenatal diagnosis].

PMID 20426782 2010 Comprehensive analysis of the molecular basis of oculocutaneous albinism in Indian patients lacking a mutation in the tyrosinase gene.

PMID 28266639 2017 Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population.

PMID 22734612 2012 Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani population.

PMID 10649493 2000 We identified four mutations (A334V, 614delA, 683insG [corrected], 727insG) in a group of 39 unrelated Black OCA2 patients with a total of 52 non-2.7 kb deletion OCA2 genes.

PMID 19060277 2009 Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism.

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

PMID 18326704 2008 A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients.

PMID 12713581 2003 In this paper, we report the frequency of OCA2, 8%, among the Japanese albino population, six novel mutations containing four missense substitutions (P198L, P211L, R10W, M398I), and two splice site mutations (IVS15+1 G>A, IVS24-1 G>C).

PMID 25919014 2015 Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism.

PMID 18821858 2008 Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1-4 genes and practical aspects.

PMID 24118800 2014 High-resolution array-CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2, and SLC45A2 genes and a complex rearrangement of the OCA2 gene.

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

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 24361966 2014 Functional characterization of two novel splicing mutations in the OCA2 gene associated with oculocutaneous albinism type II.

PMID 12713581 2003 In this paper, we report the frequency of OCA2, 8%, among the Japanese albino population, six novel mutations containing four missense substitutions (P198L, P211L, R10W, M398I), and two splice site mutations (IVS15+1 G>A, IVS24-1 G>C).

rs143395134 in TUBB3;MC1R gene and Oculocutaneous albinism type 2 PMID 26197705 2015 Identification and functional characterization of natural human melanocortin 1 receptor mutant alleles in Pakistani population.