elliptocytosis type 2

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elliptocytosis type 2

A Rhesus-unlinked form (OMIM:130600) of hereditary elliptocytosis, a genetically heterogeneous, autosomal dominant haematologic disorder characterised by variable haemolytic anaemia and elliptical or oval red cells. 

Molecular pathology
Caused by defects of SPTA1, which encodes an alpha erythrocyte spectrin and major scaffold protein linking the plasma membrane to the actin cytoskeleton.
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References in periodicals archive ?
Our theoretical example maps directly onto ARMv8 execution modes ELO to EL2: USER is ELO, SUPER is ELI and HYPER is EL2.
Based on the values obtained using the enzymatic method, a significant greater mean L-lactate level was found in groups of animals emersed at 4[degrees]C for 3 days (EL2) compared with the control group (EL0) and the animals subjected to 24 h of cold emersion (EL1).
EL2 observes and reflects on the subtle differences across the seemingly homogenous Chinese team over time.
EL2: How hard did you have to .786 6.602 work to accomplish your level of outcome?
American Society for Testing and Materials, ASTM International Committee El2 on Color and Appearance meeting, Hyatt Regency Riverfi'ont, Jacksonville, VL, Tom O'Toole (610) 832-9739; www.astm.org--January 30-31.
Samples were autoclaved at 120degC for 20 min and the final electrical conductivity was measured following equilibration at 25degC (EL2).
3) Cl, C2, C3, C4, C5, D1, D2, D3, D4, D5, E10, E12 (C1 and El2 submitted to GenBank as JN244000 and JN244004, respectively).