elliptocytosis type 3

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elliptocytosis type 3

A Rhesus-unlinked form (OMIM:182870) 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 SPTB, which encodes beta spectrin, a major constituent of the cytoskeletal network underlying the red cell plasma membrane.
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References in periodicals archive ?
ARM adds a fourth privilege level, EL3, which we could use to switch ELO and ELI between operation in secure and nonsecure contexts.
There are only three instructions that generate an exception targeting the next exception level: SVC (Supervisor Call), which generates an exception targeting ELI; HVC (Hypervisor Call), which generates an exception targeting EL2; and SMC (Secure Monitor Call), generating an exception targeting EL3. These instructions take values from 0 to 65,555, allowing for 216 unique system calls per exception level.
As variaveis EB 1, EL3 e EB3 foram identificadas como as mais criticas, uma vez que apresentam residuos com diferentes variaveis.
Date Group of traps E (2-4) F G EL1 F (5-7) -- G (8-10) -- -- H (11,12,1) -- -- -- EL2 F -- G -- -- H -- -- -- EL3 F * G * -- H * -- -- Numerals in parentheses represent trap no.
The unconventional filter mask showed promise and was further developed into two models--the E12 for rapid donning and the El3 with detachable filters.
PCR products for T59G and C314T were obtained with the primer pairs VE1 mms/EL3as (5'ccatggcgccgctgtctggccgccc-3'/5'-gggagtggtgtcctgtcgggag- gacccact-3') (8) and EL3 s/VE4as (5'-agtgggtcctccccgacaggacaccactcc-3'/5'gttggacatgatatcccagtggtgcacgat-3') (8) and cleaved with restriction enzymes Msp1 and NIaIII.
For the performance of PCR-cleavage reactions for the mutations T59G and C314T, the sequences of the sense and antisense oligonucleotide primers, the annealing temperature of the PCR reactions, the sizes of the products obtained, and the restriction enzymes used for the cleavage of the PCR products, respectively, were as follows: T59G, VE1 mms/ EL3as X71 (5'-ccatggcgccgctgtctggccgccc-3'/5'-gggagtggt-gtcctgtcgggaggacccact-3'), 65 [degrees]C, 140, MspI; and C314T, EL3 s X71/VE4as (5'-agtgggtcctccccgacaggacaccactcc-3'/ 5'-gttggacatgatatcccagtggtgcacgat-3'), 63 [degrees]C, 204, NlaIII.