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genetic disorder of haemoglobin
genetic disorder of haemoglobin

... Major abnormalities & problems in SCA Sickling of the red cell during deoxygenation, as the HbS has low solubility at low O2 partial pressure and precipitates.  Chronic haemolytic anaemia due to repeated sickling in tissues and unsickling in the lungs.  Plugging of microcapillaries by rigid sick ...
Web API In addition to the web interface, one can access Cas
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... {"page_count": 1, "offtargets": [{"chromosome": "chr2", "sequence": "GCATGACAAAAgATaAGACAGGG", "region": "Intergenic", "strand": "+", "position": 126565746, "mismatch_count": 2}, {"chromosome": "chr3", "sequence": "tCATGACAAAAAATCAGAaACAG", "region": "Intergenic", "strand": "+", "position": 16399127 ...
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Introduction to Genetics
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Case File 1: Hemophilia A
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X-inactivation



X-inactivation (also called lyonization) is a process by which one of the two copies of the X chromosome present in female mammals is inactivated. The inactive X chromosome is silenced by its being packaged in such a way that it has a transcriptionally inactive structure called heterochromatin. As nearly all female mammals have two X chromosomes, X-inactivation prevents them from having twice as many X chromosome gene products as males, who only possess a single copy of the X chromosome (see dosage compensation). The choice of which X chromosome will be inactivated is random in placental mammals such as humans, but once an X chromosome is inactivated it will remain inactive throughout the lifetime of the cell and its descendants in the organism. Unlike the random X-inactivation in placental mammals, inactivation in marsupials applies exclusively to the paternally derived X chromosome.
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