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.
References in periodicals archive ?
To examine the effect of EL2 proteolysis on binding membranes were digested with protease and incubated on ice with [[sup.
3]H]dopamine transport, suggesting the integrity of EL2 is required for binding and transport activity.
The released Manila clam juveniles tended to be transported in a downstream direction of the advection current during EL2 and EL3, although this trend was less statistically clear for EL2.
The Pulsar EL2 is a 250VA/175W system that provides 8 minutes of battery backup at full load, or 20 minutes at half load.
Automated part- and runner-removal equipment for injection molding machines includes EMS sprue pickers; ES2 heavyduty, swing-type part or runner removers; ELC2 traversing pickers; and EL2 pneumatic or variable frequency electric-driven traverse robots; and EL3s servo-driven traverse robots.
Automated part- and runner-removal equipment for injection molding machines includes Eagle EMS sprue pickers; ES2 heavy-duty, swing-type removers for part or runner removal; ELC2 traversing pickers; and EL2 traverse-type units.
Automated part- and runner-removal equipment for injection molding machines includes Eagle EC sprue pickers; ES heavy-duty, swing-type removers for part or runner removal; and EL2 traverse-type units.