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… deletion of EPB41 genuine AUG-containing exons results in mRNA splicing defects, NMD activation and protein 4.1 R complete deficiency in hereditary elliptocytosis

F Baklouti, M Morinière, A Haj-Khélil… - Blood Cells, Molecules, …, 2011 - Elsevier
... Homozygous deletion of EPB41 genuine AUG-containing exons results in mRNA
splicing defects, NMD activation and protein 4.1R complete deficiency in hereditary
elliptocytosis. Faouzi Baklouti a , low asterisk , E-mail The ...

Hemoglobinopathies, G6PD Deficiency, and Hereditary Elliptocytosis in Bahrain

S Dash - Human Biology, 2011 - digitalcommons.wayne.edu
... Article Title. Hemoglobinopathies, G6PD Deficiency, and Hereditary Elliptocytosis in Bahrain.
Authors. ... Recommended Citation. Dash, Sumitra (2004) "Hemoglobinopathies, G6PD Deficiency,
and Hereditary Elliptocytosis in Bahrain," Human Biology: Vol. 76: Iss. ...
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Red Cell Membrane Disorders

SA Feig, GB Segel… - Chronic Complex Diseases of …, 2011 - books.google.com
... Some neonates with elliptocytosis present with brisk hemolysis in the Table 7.1: Red Cell
Membrane Disorders Disease Localization Cations Disrupted Hereditary Spherocytosis
Cytoskeleton Yes Hereditary Elliptocytosis Cytoskeleton Yes Hereditary Pyropoikilocytosis ...
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Association of hereditary elliptocytosis and Gilbert's syndrome as the cause of biliary calculosis: Case report

[PDF] from nb.rsN Radlović, D Ristić, R Brdar, N Janić… - Srpski arhiv za …, 2011 - doiserbia.nb.rs
... Keywords: biliary calculosis; hereditary elliptocytosis; Gilbert's syndrome ... Laboratory blood analy-
sis showed a high serum bilirubin level (total 423, conju- gated 164 μmol/L), gamma-glutamyl
transpeptidase (115 U/L), alkakaline phosphatase (1248 U/L) and transaminase (AST ...

A genomic deletion causes truncation of [alpha]-spectrin and ellipto-poikilocytosis

A Iolascon, MJ King, S Robertson… - Blood Cells, Molecules, …, 2011 - Elsevier
... Disruption of spectrin self-association leads to disorders characterized by abnormally shaped
erythrocytes, particularly hereditary elliptocytosis (HE) and, its aggravated form, poikilocytosis
with fragmented red cells (HP) [1] and [5]. Spectrin mutants constitute a useful tool to ...
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