rs334
|
|
|
0.850 |
GeneticVariation |
BEFREE |
We also show that HiFi Cas9 mediates high-level correction of the sickle cell disease (SCD)-causing p.E6V mutation in HSPCs derived from patients with SCD.
|
30082871 |
2018 |
rs334
|
|
A |
0.850 |
CausalMutation |
CLINVAR |
The Prevalence of Sickle Cell Disease and Its Implication for Newborn Screening in Germany (Hamburg Metropolitan Area).
|
26275168 |
2016 |
rs334
|
|
|
0.850 |
GeneticVariation |
BEFREE |
We also show efficient correction of the Glu6Val mutation responsible for sickle cell disease by using patient-derived stem and progenitor cells that, after differentiation into erythrocytes, express adult β-globin (HbA) messenger RNA, which confirms intact transcriptional regulation of edited HBB alleles.
|
27820943 |
2016 |
rs334
|
|
|
0.850 |
GeneticVariation |
BEFREE |
Sickle cell anemia (SCA) is an autosomal recessive disease caused by the HBB:c.20A>T mutation that leads to hemoglobin S synthesis.
|
27814292 |
2016 |
rs334
|
|
A |
0.850 |
CausalMutation |
CLINVAR |
Prevalence of sickle cell disease in a pediatric population suffering from severe infections: a Congolese experience.
|
25023084 |
2014 |
rs334
|
|
A |
0.850 |
CausalMutation |
CLINVAR |
Prevalence of the β(S) gene among scheduled castes, scheduled tribes and other backward class groups in Central India.
|
25023085 |
2014 |
rs334
|
|
|
0.850 |
GeneticVariation |
UNIPROT |
Structure of fully liganded Hb ζ2β2s trapped in a tense conformation.
|
24100324 |
2013 |
rs334
|
|
|
0.850 |
GeneticVariation |
BEFREE |
Sickle cell anemia (SCA, HBB glu6val) is characterized by multiple complications and a high degree of phenotypic variability: some subjects have only sporadic pain crises and few acute hospitalizations, while others experience multiple serious complications, high levels of morbidity, and accelerated mortality [1].
|
21264913 |
2011 |
rs334
|
|
|
0.850 |
GeneticVariation |
BEFREE |
Thalassaemia and sickle cell disease (SCD) represent the most common forms of hereditary haemolytic anaemia and result from a partial or complete lack of synthesis of one of the major alpha- or beta-globin chains of haemoglobin A or from a single amino acid mutation (beta(6Glu-->Val)) of the beta-globin chain respectively.
|
17854302 |
2007 |
rs334
|
|
|
0.850 |
GeneticVariation |
UNIPROT |
How malaria has affected the human genome and what human genetics can teach us about malaria.
|
16001361 |
2005 |
rs334
|
|
|
0.850 |
GeneticVariation |
UNIPROT |
Crystal structure of sickle-cell deoxyhemoglobin at 5 A resolution.
|
1195378 |
1975 |
rs334
|
|
|
0.850 |
GeneticVariation |
UNIPROT |
Gene mutations in human haemoglobin: the chemical difference between normal and sickle cell haemoglobin.
|
13464827 |
1957 |
rs111645889
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs11549407
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs33914668
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs33915217
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs33922842
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs33930165
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs33931746
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs33931746
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs33941377
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs33941377
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs33941849
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs33944208
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs33945777
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|