Autosomal dominant overhydrated stomatocytosis associated with the heterozygous RhAG mutation F65S: a case of missed heterozygosity due to allelic dropout-Reference-Cited by-同舟云学术

Autosomal dominant overhydrated stomatocytosis associated with the heterozygous RhAG mutation F65S: a case of missed heterozygosity due to allelic dropout

Published:2013-02-14 Issue:4 Volume:161 Page:602-604
ISSN:0007-1048
Container-title:British Journal of Haematology
language:en
Short-container-title:Br J Haematol

Author:

Shmukler Boris E.¹²,Mukodzi Sally³,Andres Oliver⁴,Eber Stefan⁴⁵,Alper Seth L.¹²

Affiliation:

1. Renal Division and Molecular and Vascular Medicine Division; Beth Israel Deaconess Medical Center; Boston MA USA

2. Department of Medicine; Harvard Medical School; Boston MA USA

3. Paediatric Clinic; Klinikum-Wolfsburg; Wolfsburg Germany

4. Department of Paediatrics; Children's Hospital; University of Wuerzburg; Wuerzburg Germany

5. Practice for Paediatric Haematology and Children's Hospital; Technical University of Munich; Munich Germany

Publisher

Wiley

Subject

Hematology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/bjh.12261/fullpdf

Reference10 articles.

1. Monovalent cation leaks in human red cells caused by single amino-acid substitutions in the transport domain of the band 3 chloride-bicarbonate exchanger, AE1;Bruce;Nature Genetics,2005

2. The monovalent cation leak in overhydrated stomatocytic red blood cells results from amino acid substitutions in the Rh-associated glycoprotein;Bruce;Blood,2009

3. Alterations of red blood cell metabolome in overhydrated hereditary stomatocytosis;Darghouth;Haematologica,2011

4. Hereditary stomatocytosis: consistent association with an integral membrane protein deficiency;Eber;British Journal of Haematology,1989

5. Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome;Flatt;Blood,2011

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2. Allelic Dropout Is a Common Phenomenon That Reduces the Diagnostic Yield of PCR-Based Sequencing of Targeted Gene Panels;Frontiers in Genetics;2021-02-01

3. Advances in understanding the pathogenesis of red cell membrane disorders;British Journal of Haematology;2019-07-31

4. Early postnatal diagnosis of hereditary spherocytosis by combining light microscopy, acidified glycerol lysis test and eosin-5′-maleimide binding assay;Annals of Hematology;2015-09-04