L. Harteveld, "A confidential inquiry estimating the number of patients affected with sickle cell disease and thalassemia major confirms the need for a prevention strategy in The Netherlands," Hemoglobin, vol. 28, no. 4, pp. 287-296, 2004....
Copy-number variants (CNVs) have been implicated in a variety of neuropsychiatric and cognitive phenotypes. We found that deleterious CNVs are less prevalent in non-European ancestry groups than they are in European ancestry groups of both the UK Biobank (UKBB) and a US replication cohort (SPARK...
The hemoglobin disorders are highly prevalent, recessive genetic diseases in which coinheritance of 2 defective globin alleles results in severe hematologic disease. In patients with sickle cell anemia, the beta chain of hemoglobin S contains a substitution of valine for glutamic acid at position 6....
The system contains a number of monitoring devices, such as bedside units for monitoring parameters of patients, and a central station in star connection. Each monitoring device contains a signal generator and a display device for the display of monitored parameters. The central station contains a ...
Admixture mapping has been useful in identifying genetic variations linked to phenotypes, adaptation and diseases. Copy number variations (CNVs) represents genomic structural variants spanning large regions of chromosomes reaching several megabases. In t
Deletions including ZNF533 have been described in several patients with a neurological phenotype including mental retarda- tion,48,49 and other zinc-finger genes have also been implicated in mental retardation cases.50–52 The zinc-finger gene ZNF804A was recently identified as the strongest result...
Platelet function and survival in sickle cell disease Aggregation of platelets collected from 3 patients during a period of thrombocytosis following crisis was greater than normal.M J Haut... MJ Haut,DH Cowan,JW Harris - 《Journal of Laboratory & Clinical Medicine》 被引量: 125发表: 1973年 Alt...
Nineteen months after the treatment, the patients leukemia was in complete remission( 缓解 ) and donor cells without CCR5 remained, according to the research paper. Though the transplant didn't cure the man’s HIV, it still showed the effectiveness of gene-editing technology, as there was no...
In a recent paper inNature Biomedical Engineering, Aran and her team tested the sensitivity of their CRISPR-Chip by using it to detect two common genetic mutations in blood samples from Duchenne muscular dystrophy (DMD) patients. The t...
Disclosed is number coding of pairs (“doublets”) or small sets (“multiplets”) of solid phase carriers which provides distinguishable subtypes of a given type of such carriers, where