Subtle adjustments of the glucose-6-phosphate dehydrogenase (G6PD) mutation database and reference sequence

Blood Cells, Molecules, and Diseases

Volumn 52, Issue 1, 2014, Pages 55-56

  Mazières, Stéphane ^a   Petit, Florence ^a   Dugoujon, Jean Michel ^b   Iriart, Xavier ^c   Berry, Antoine ^c   Carme, Bernard ^e   Nacher, Mathieu ^d,e   Bailly, Pascal ^f   Chiaroni, Jacques ^f  

^a AIX MARSEILLE UNIVERSITÉ   (France)

^b UNIVERSITÉ PAUL SABATIER   (France)

^c TOULOUSE UNIVERSITY HOSPITAL   (France)

^d INSERM   (France)

^e UNIVERSITÉ DES ANTILLES ET DE LA GUYANE   (France)

^f ETABLISSEMENT FRANÇAIS DU SANG   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ENZYME VARIANT; GLUCOSE 6 PHOSPHATE DEHYDROGENASE;

BASE MISPAIRING; CAPILLARY ELECTROPHORESIS; CASE REPORT; CONTROLLED STUDY; DNA SEQUENCE; ENZYME MODIFICATION; FRAMESHIFT MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC DATABASE; GENOTYPE; GLUCOSE 6 PHOSPHATE DEHYDROGENASE DEFICIENCY; GLUCOSE 6 PHOSPHATE DEHYDROGENASE GENE; HUMAN; LETTER; MALARIA; MALE; MUTATION DATABASE; NUCLEIC ACID ANALYSIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; REFERENCE SEQUENCE; SEQUENCE ALIGNMENT;

DATABASES, GENETIC; GLUCOSEPHOSPHATE DEHYDROGENASE; HUMANS; MUTATION;

EID: 84888327214     PISSN: 10799796     EISSN: 10960961     Source Type: Journal    
DOI: 10.1016/j.bcmd.2013.07.001     Document Type: Letter

References (7)

1. Minucci A., Moradkhani K., Hwang M.J., Zuppi C., Giardina B., Capoluongo E. Glucose-6-phosphate dehydrogenase (G6PD) mutations database: review of the "old" and update of the new mutations. Blood Cells Mol. Dis. 2012, 48:154-165.
2. Beutler E. Glucose-6-phosphate dehydrogenase deficiency: a historical perspective. Blood 2008, 111:16-24.
3. Hall T.A. BioEdit: a user-friendly biological sequence alignment editor and analysis program for Windows 95/98/NT. Nucleic Acids Symp. Ser. 1999, 41:95-98.
4. Vulliamy T.J., D'Urso M., Battistuzzi G., Estrada M., Foulkes N.S., Martini G., Calabro V., Poggi V., Giordano R., Town M., et al. Diverse point mutations in the human glucose-6-phosphate dehydrogenase gene cause enzyme deficiency and mild or severe hemolytic anemia. Proc. Natl. Acad. Sci. U. S. A. 1988, 85:5171-5175.
5. Minucci A., Gentile L., Zuppi C., Giardina B., Capoluongo E. Rapid and simple identification of the commonest glucose-6-phosphate dehydrogenase (G6PD) Italian mutations: from DNA extraction to genotyping. Clin. Chim. Acta 2012, 413:1018-1019.
6. Geer L.Y., Marchler-Bauer A., Geer R.C., Han L., He J., He S., Liu C., Shi W., Bryant S.H. The NCBI BioSystems database. Nucleic Acids Res. 2010, 38:D492-D496.
7. Drousiotou A., Touma E.H., Andreou N., Loiselet J., Angastiniotis M., Verrelli B.C., Tishkoff S.A. Molecular characterization of G6PD deficiency in Cyprus. Blood Cells Mol. Dis. 2004, 33:25-30.