Art

J-GLOBAL ID：200902247702105576   Reference number：08A0722316

G6PD deficiency assessment in Freetown, Sierra Leone, reveals further insight into the molecular heterogeneity of G6PD A-

シエラレオネ,フリータウンでのG6PD欠損評価はG6PD A-の分子的多様性に更なる見方を提供する

Author (9)： JALLOH Amadu (Jichi Medical Univ., Tochigi, JPN) ,  JALLOH Amadu (Univ. Sierra Leone, Freetown, SLE) ,  JALLOH Muctarr (Princess Christian Maternity and Children’s Hospital, Freetown, SLE) ,  GAMANGA Idrissa (Princess Christian Maternity and Children’s Hospital, Freetown, SLE) ,  BAION David (Princess Christian Maternity and Children’s Hospital, Freetown, SLE) ,  SAHR Foday (Univ. Sierra Leone, Freetown, SLE) ,  GBAKIMA Aiah (Univ. Sierra Leone, Freetown, SLE) ,  WILLOUGHBY Victor R. (Univ. Sierra Leone, Freetown, SLE) ,  MATSUOKA Hiroyuki (Jichi Medical Univ., Tochigi, JPN)
Material： Journal of Human Genetics  (J Hum Genet)
Volume： 53  Issue： 7  Page： 675-679  Publication year： 2008 
JST Material Number： Z0756A  ISSN： 1434-5161  Document type： Article
Article type： 短報  Country of issue： United Kingdom (GBR)  Language： ENGLISH (EN)

Thesaurus term： Republic of Sierra Leone ,...
Semi thesaurus term： *G6PD deficiency

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JST classification (4)： Structure and chemistry of genes  (EC02020U) ,  Congenital diseases,deformities in general.  (GD03010V) ,  Metabolic diseases,nutritional diseases in general.  (GD05010J) ,  Hematologic diseases  (GK03000F)

Reference (14)：

• BEUTLER, E. Linkage between a PvuII restriction fragment length polymorphism and G6PD A-202A/376G : evidence for a single origin of the common G6PD A- mutation. Hum Genet. 1990, 85, 9-11
• BEUTLER, E. Molecular heterogeneity of glucose-6-phosphate dehydrogenase A-. Blood. 1989, 74, 2550-2555
• BEUTLER, E. Hematologically important mutations : glucose-6-phosphate dehydrogenase. Blood Cells Mol Dis. 2002, 28, 93-103
• FUJII, H. A new simple screening method for glucose-6-phosphate dehydrogenase deficiency. Acta Haematol Jpn. 1984, 47, 185-188
• GOMEZ-GALLEGO, F. Structural defects underlying protein dysfunction in human glucose-6-phosphate dehydrogenase A-deficiency. J Biol Chem. 2000, 275, 9256-9262

Terms in the title (6)： シエラレオネ ,  G6PD ,  欠損 ,  評価 ,  分子 ,  多様性