|
rs121912288
|
|
T |
0.750 |
CausalMutation |
CLINVAR |
Here we describe the production of iPS cells from DC patients with DKC1 mutations Q31E, A353V and ΔL37.
|
25992652 |
2015 |
|
rs121912288
|
|
|
0.750 |
GeneticVariation |
BEFREE |
Defects in mTR stability and telomerase activity produced by the Dkc1 A353V mutation in dyskeratosis congenita are rescued by a peptide from the dyskerin TruB domain.
|
22855157 |
2012 |
|
rs121912288
|
|
T |
0.750 |
CausalMutation |
CLINVAR |
The accumulation and not the specific activity of telomerase ribonucleoprotein determines telomere maintenance deficiency in X-linked dyskeratosis congenita.
|
22058290 |
2012 |
|
rs121912288
|
|
|
0.750 |
GeneticVariation |
BEFREE |
We found that the most prevalent dyskerin mutation in DC (A353V) did not affect formation of the NAF1-dyskerin-NOP10-NHP2 tetramer that normally assembles with nascent H/ACA RNAs in vivo.
|
20008900 |
2010 |
|
rs121912288
|
|
T |
0.750 |
CausalMutation |
CLINVAR |
Single-molecule analysis of the human telomerase RNA.dyskerin interaction and the effect of dyskeratosis congenita mutations.
|
19835419 |
2009 |
|
rs121912288
|
|
T |
0.750 |
CausalMutation |
CLINVAR |
Variable expression of Dkc1 mutations in mice.
|
19391112 |
2009 |
|
rs121912288
|
|
|
0.750 |
GeneticVariation |
BEFREE |
The diverse clinical phenotype seen in patients with X-linked DC is not explained by the different amino acid substitutions: Presentation of the recurrent A353V substitution ranges from classic DC to the severe HH variant.
|
16332973 |
2006 |
|
rs121912288
|
|
|
0.750 |
GeneticVariation |
BEFREE |
In the second pedigree, the proband's mother phenotypically normal carried a de novo transition mutation of 1058C-->T (A353 V) in one allele, and transmitted the mutant allele to her two sons who had typical manifestations of dyskeratosis congenita.
|
15304085 |
2004 |
|
rs121912288
|
|
|
0.750 |
GeneticVariation |
BEFREE |
Only his mother's DNA was available for mutation analysis, which revealed a nucleotide transition of C to T (1058 C --> T), a hotspot mutation in DKC, resulting in an amino acid change from alanine to valine (A353V) in the DKC1 gene.
|
12513020 |
2002 |
|
rs121912288
|
|
T |
0.750 |
CausalMutation |
CLINVAR |
X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene.
|
10364516 |
1999 |