Menu
×
John L. Dart Library
9 a.m. – 7 p.m.
Phone: (843) 722-7550
West Ashley Library
9 a.m. – 7 p.m.
Phone: (843) 766-6635
Folly Beach Library
Closed
Phone: (843) 588-2001
Edgar Allan Poe/Sullivan's Island Library
Closed for renovations
Phone: (843) 883-3914
Wando Mount Pleasant Library
9 a.m. – 8 p.m.
Phone: (843) 805-6888
Village Library
9 a.m. – 6 p.m.
Phone: (843) 884-9741
St. Paul's/Hollywood Library
9 a.m. – 8 p.m.
Phone: (843) 889-3300
Otranto Road Library
9 a.m. – 8 p.m.
Phone: (843) 572-4094
Mt. Pleasant Library
9 a.m. – 8 p.m.
Phone: (843) 849-6161
McClellanville Library
9 a.m. - 6 p.m.
Phone: (843) 887-3699
Keith Summey North Charleston Library
9 a.m. – 8 p.m.
Phone: (843) 744-2489
John's Island Library
9 a.m. – 8 p.m.
Phone: (843) 559-1945
Hurd/St. Andrews Library
9 a.m. – 8 p.m.
Phone: (843) 766-2546
Miss Jane's Building (Edisto Library Temporary Location)
9 a.m. – 6 p.m.
Phone: (843) 869-2355
Dorchester Road Library
9 a.m. – 8 p.m.
Phone: (843) 552-6466
Baxter-Patrick James Island
9 a.m. – 8 p.m.
Phone: (843) 795-6679
Main Library
9 a.m. – 8 p.m.
Phone: (843) 805-6930
Bees Ferry West Ashley Library
9 a.m. – 8 p.m.
Phone: (843) 805-6892
Mobile Library
9 a.m. - 5 p.m.
Phone: (843) 805-6909
Today's Hours
John L. Dart Library
9 a.m. – 7 p.m.
Phone: (843) 722-7550
West Ashley Library
9 a.m. – 7 p.m.
Phone: (843) 766-6635
Folly Beach Library
Closed
Phone: (843) 588-2001
Edgar Allan Poe/Sullivan's Island Library
Closed for renovations
Phone: (843) 883-3914
Wando Mount Pleasant Library
9 a.m. – 8 p.m.
Phone: (843) 805-6888
Village Library
9 a.m. – 6 p.m.
Phone: (843) 884-9741
St. Paul's/Hollywood Library
9 a.m. – 8 p.m.
Phone: (843) 889-3300
Otranto Road Library
9 a.m. – 8 p.m.
Phone: (843) 572-4094
Mt. Pleasant Library
9 a.m. – 8 p.m.
Phone: (843) 849-6161
McClellanville Library
9 a.m. - 6 p.m.
Phone: (843) 887-3699
Keith Summey North Charleston Library
9 a.m. – 8 p.m.
Phone: (843) 744-2489
John's Island Library
9 a.m. – 8 p.m.
Phone: (843) 559-1945
Hurd/St. Andrews Library
9 a.m. – 8 p.m.
Phone: (843) 766-2546
Miss Jane's Building (Edisto Library Temporary Location)
9 a.m. – 6 p.m.
Phone: (843) 869-2355
Dorchester Road Library
9 a.m. – 8 p.m.
Phone: (843) 552-6466
Baxter-Patrick James Island
9 a.m. – 8 p.m.
Phone: (843) 795-6679
Main Library
9 a.m. – 8 p.m.
Phone: (843) 805-6930
Bees Ferry West Ashley Library
9 a.m. – 8 p.m.
Phone: (843) 805-6892
Mobile Library
9 a.m. - 5 p.m.
Phone: (843) 805-6909
Patron Login
menu
Item request has been placed!
×
Item request cannot be made.
×
![loading](/sites/all/modules/hf_eds/images/loading.gif)
A nonsense variant in the Hexokinase 1 gene (HK1) causing severe non-spherocytic haemolytic anaemia: genetic analysis exemplifies ambiguity due to multiple Isoforms.
Item request has been placed!
×
Item request cannot be made.
×
![loading](/sites/all/modules/hf_eds/images/loading.gif)
- Author(s): Jamwal M;Jamwal M; Aggarwal A; Aggarwal A; Palodi A; Palodi A; Sharma P; Sharma P; Bansal D; Bansal D; Maitra A; Maitra A; Das R; Das R
- Source:
British journal of haematology [Br J Haematol] 2019 Sep; Vol. 186 (5), pp. e142-e145. Date of Electronic Publication: 2019 May 23.- Publication Type:
Case Reports; Letter; Research Support, Non-U.S. Gov't- Language:
English - Source:
- Additional Information
- Source: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 0372544 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2141 (Electronic) Linking ISSN: 00071048 NLM ISO Abbreviation: Br J Haematol Subsets: MEDLINE
- Publication Information: Publication: Oxford : Wiley-Blackwell
Original Publication: Oxford : Blackwell Scientific Publications - Subject Terms:
- References: India Project Team of the International Cancer Genome Consortium (2013) Mutational landscape of gingivo-buccal oral squamous cell carcinoma reveals new recurrently-mutated genes and molecular subgroups. Nature Communications, 4, 2873.
Jamwal, M., Aggarwal, A., Das, A., Maitra, A., Sharma, P., Krishnan, S., Arora, N., Bansal, D. & Das, R. (2017) Next-generation sequencing unravels homozygous mutation in glucose-6-phosphate isomerase, GPI c.1040G> A (p.Arg347His) causing hemolysis in an Indian infant. Clinica Chimica Acta, 468, 81-84.
Jamwal, M., Aggarwal, A., Sachdeva, M.U.S., Sharma, P., Malhotra, P., Maitra, A. & Das, R. (2018) Overhydrated stomatocytosis associated with a complex RHAG genotype including a novel de novo mutation. Journal of Clinical Pathology, 71, 648-652.
Kanno, H., Murakami, K., Hariyama, Y., Ishikawa, K., Miwa, S. & Fujii, H. (2002) Homozygous intragenic deletion of type I hexokinase gene causes lethal hemolytic anemia of the affected fetus. Blood, 100, 1930.
Khazal, S., Polishchuk, V., Manwani, D., Gallagher, P.G., Prinzing, S. & Mahadeo, K.M. (2016) Allogeneic bone marrow transplantation for treatment of severe hemolytic anemia attributable to hexokinase deficiency. Blood, 128, 735-737.
Koralkova, P., Mojzikova, R., van Oirschot, B., Macartney, C., Timr, P., Vives Corrons, J.L., Striezencova Laluhova, Z., Lejhancova, K., Divoky, V. & van Wijk, R. (2016) Molecular characterization of six new cases of red blood cell hexokinase deficiency yields four novel mutations in HK1. Blood Cells, Molecules & Diseases, 59, 71-76.
Murakami, K., Kanno, H., Tancabelic, J. & Fujii, H. (2002) Gene expression and biological significance of hexokinase in erythroid cells. Acta Haematologica, 108, 204-209.
de Vooght, K.M.K., van Solinge, W.W., van Wesel, A.C., Kersting, S. & van Wijk, R. (2009) First mutation in the red blood cell-specific promoter of hexokinase combined with a novel missense mutation causes hexokinase deficiency and mild chronic hemolysis. Haematologica, 94, 1203-1210. - Contributed Indexing: Keywords: haemolytic anaemia; hexokinase deficiency; inherited anaemias; molecular diagnosis
- Accession Number: 0 (Codon, Nonsense)
0 (Protein Isoforms)
EC 2.7.1.1 (Hexokinase) - Publication Date: Date Created: 20190524 Date Completed: 20200716 Latest Revision: 20200716
- Publication Date: 20221213
- Accession Number: 10.1111/bjh.15981
- Accession Number: 31119733
- Source:
Contact CCPL
Copyright 2022 Charleston County Public Library Powered By EBSCO Stacks 3.3.0 [350.3] | Staff Login
No Comments.