rs28937879
|
|
C |
0.820 |
CausalMutation |
CLINVAR |
Phenotype and genotype analysis in patients with macular corneal dystrophy.
|
24926691 |
2014 |
rs28937879
|
|
C |
0.820 |
CausalMutation |
CLINVAR |
Macular corneal dystrophy and associated corneal thinning.
|
25081284 |
2014 |
rs28937879
|
|
C |
0.820 |
CausalMutation |
CLINVAR |
Macular corneal dystrophy: mutational spectrum in German patients, novel mutations and therapeutic options.
|
18500531 |
2008 |
rs28937879
|
|
C |
0.820 |
CausalMutation |
CLINVAR |
Allelic association of the c.[484C>G; 599T>G] in six probands out of eight, as well as occurrence of this particular allele in a heterozygous state in one healthy control individual, supports a common founder effect for MCD in the Czech Republic.
|
17962390 |
2008 |
rs28937879
|
|
|
0.820 |
GeneticVariation |
BEFREE |
Allelic association of the c.[484C>G; 599T>G] in six probands out of eight, as well as occurrence of this particular allele in a heterozygous state in one healthy control individual, supports a common founder effect for MCD in the Czech Republic.
|
17962390 |
2008 |
rs28937879
|
|
C |
0.820 |
CausalMutation |
CLINVAR |
CHST6 mutations in North American subjects with macular corneal dystrophy: a comprehensive molecular genetic review.
|
16568029 |
2006 |
rs28937879
|
|
C |
0.820 |
CausalMutation |
CLINVAR |
Novel CHST6 nonsense and missense mutations responsible for macular corneal dystrophy.
|
15652851 |
2005 |
rs28937879
|
|
C |
0.820 |
CausalMutation |
CLINVAR |
Novel mutations in the CHST6 gene causing macular corneal dystrophy.
|
14984470 |
2004 |
rs28937879
|
|
C |
0.820 |
CausalMutation |
CLINVAR |
Novel mutations in the carbohydrate sulfotransferase gene (CHST6) in American patients with macular corneal dystrophy.
|
15013869 |
2004 |
rs28937879
|
|
|
0.820 |
GeneticVariation |
BEFREE |
CHST6 coding region analysis in 10 patients identified as having type I macular corneal dystrophy revealed 10 sequence changes: eight missense mutations, four of which are novel (Met104Val, Tyr110Cys, Gln122Pro, and Leu276Pro) and four of which have been reported previously (Ser51Leu, Pro72Ser, Cys102Gly, and Leu200Arg); one novel homozygous nonsense mutation in two patients from a single family (c. 1683C>T, Gln331X); and one frameshift mutation in a heterozygous state in a single patient (c.1744_1751dupGTGCGCTG).
|
15013869 |
2004 |
rs28937879
|
|
C |
0.820 |
CausalMutation |
CLINVAR |
Truncating mutations in the carbohydrate sulfotransferase 6 gene (CHST6) result in macular corneal dystrophy.
|
12824236 |
2003 |
rs28937879
|
|
C |
0.820 |
CausalMutation |
CLINVAR |
Identification of novel mutations in the carbohydrate sulfotransferase gene (CHST6) causing macular corneal dystrophy.
|
11818380 |
2002 |
rs28937879
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
|
|
|