|
rs62645904
|
|
|
0.730 |
GeneticVariation |
BEFREE |
Compound heterozygous mutations (c.832C>T and c.929_930insC) in the TYR gene may be responsible for partial clinical manifestations of OCA, while the homozygous missense mutation c.814G>A (p.Glu272Lys) in the SLC45A2 gene may not be associated with OCA.
|
27829221 |
2016 |
|
rs62645904
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism.
|
25919014 |
2015 |
|
rs62645904
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
Genetic analyses of Chinese patients with digenic oculocutaneous albinism.
|
23324268 |
2013 |
|
rs62645904
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
Three mutational alleles, R278X and R52I of the TYR gene and C229Y of the SLC45A2 gene, are added to the mutational spectra of Korean patients with OCA, and we report the first Korean case of OCA2 with the OCA2 gene mutations.
|
22042571 |
2012 |
|
rs62645904
|
|
|
0.730 |
GeneticVariation |
BEFREE |
Our findings, along with the results of previous studies, indicate that the p.Cys35Arg, p.Arg278* and p.Gly419Arg alleles of TYR and the p.Asp486Tyr and c.1045-15 T > G alleles of OCA2 are the most common causes of OCA in Pakistani families.
|
22734612 |
2012 |
|
rs62645904
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
Our findings, along with the results of previous studies, indicate that the p.Cys35Arg, p.Arg278* and p.Gly419Arg alleles of TYR and the p.Asp486Tyr and c.1045-15 T > G alleles of OCA2 are the most common causes of OCA in Pakistani families.
|
22734612 |
2012 |
|
rs62645904
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
Spectrum of candidate gene mutations associated with Indian familial oculocutaneous and ocular albinism.
|
20806075 |
2010 |
|
rs62645904
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
Higher prevalence of OCA1 in an ethnic group of eastern India is due to a founder mutation in the tyrosinase gene.
|
16056219 |
2005 |
|
rs62645904
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
Two novel deletions (c.937del8, c.1379del2) and a previously known nonsense mutation (R278X) in the TYR gene were identified from a total of 8 oculocutaneous albinism patients in India.
|
15635296 |
2004 |
|
rs62645904
|
|
|
0.730 |
GeneticVariation |
BEFREE |
Two novel deletions (c.937del8, c.1379del2) and a previously known nonsense mutation (R278X) in the TYR gene were identified from a total of 8 oculocutaneous albinism patients in India.
|
15635296 |
2004 |
|
rs62645904
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
Tyrosinase gene analysis in Japanese patients with oculocutaneous albinism.
|
15381243 |
2004 |
|
rs62645904
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel.
|
8128955 |
1994 |
|
rs62645904
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinism (OCA).
|
7902671 |
1993 |