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Polycythemia is sometimes called erythrocytosis, and there is significant overlap in the two findings, but the terms are not the same: polycythemia describes any increase in hematocrit and/or hemoglobin, while erythrocytosis describes an increase specifically in the number of red blood cells in the blood.
The method plots data points that represent a specific time and fluorescence intensity at various wavelengths of light to represent a DNA profile. [ 2 ] [ page needed ] In the field of genetics, an electropherogram is a plot of DNA fragment sizes, typically used for genotyping such as DNA sequencing . [ 3 ]
192195 Ensembl ENSG00000116539 ENSMUSG00000028053 UniProt Q9NR48 Q99MY8 RefSeq (mRNA) NM_018489 NM_001366177 NM_138679 RefSeq (protein) NP_060959 NP_001353106 NP_619620 Location (UCSC) Chr 1: 155.34 – 155.56 Mb Chr 3: 88.86 – 88.99 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse ASH1L (also called huASH1, ASH1, ASH1L1, ASH1-like, or KMT2H) is a histone-lysine N-methyltransferase ...
Hemoglobinopathy is the medical term for a group of inherited blood disorders involving the hemoglobin, the protein of red blood cells. [1] They are single-gene disorders and, in most cases, they are inherited as autosomal co-dominant traits.
DNA sequencing is the process of determining the nucleic acid sequence – the order of nucleotides in DNA. It includes any method or technology that is used to determine the order of the four bases: adenine, guanine, cytosine, and thymine. The advent of rapid DNA sequencing methods has greatly accelerated biological and medical research and ...
Sequencing may be performed on a single gene, a group of genes (panel testing), most of the coding region or exons (whole exome sequencing), or most of the genome (whole genome sequencing). With time, this technology is expected to be able to detect any abnormality of the human genome.
According to a study released in 2015, a stop gain mutation in HBB gene (p. Gln40stop) was shown to be associated with ESR values in Sardinian population . The red blood cell count, whose values are inversely related to ESR, is affected in carriers of this SNP .
EL2 and EL3: The most common genetic defects (present in two-thirds of all cases of hereditary elliptocytosis) are in genes for the polypeptides α-spectrin or β-spectrin. These two polypeptides combine with one another in vivo to form an αβ heterodimer. These αβ heterodimers then combine to form spectrin tetramers. These spectrin ...
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