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| Novel human pathological mutations. [JOURNAL ARTICLE]
Hum Genet 2008 Sep 12.
Full Citation | Find Related Articles | | Delbini P, Duca L, Nava I, et al.
Gene symbol: G6PD. Disease: Glucose-6-phosphate dehydrogenase deficiency. [Journal Article]
Hum Genet 2008 Oct; 124(3):312-3.
Full Citation | | Jiang W, Yu G, Liu P, et al.
Structure and function of glucose-6-phosphate dehydrogenase-deficient variants in Chinese population. [Journal Article]
Hum Genet 2006 Jun; 119(5):463-78.
Abstract | Full Citation | Publisher Full Text | Find Related Articles | | Vulliamy TJ, Kaeda JS, Ait-Chafa D, et al.
Clinical and haematological consequences of recurrent G6PD mutations and a single new mutation causing chronic nonspherocytic haemolytic anaemia. [Journal Article]
Br J Haematol 1998 Jun; 101(4):670-5.
Abstract | Full Citation | Publisher Full Text | Find Related Articles | | Lam CW, Chan KY, Tong SF, et al.
A novel missense mutation (P191L) in the glucose-6-phosphate translocase gene identified in a Chinese family with glycogen storage disease 1b. [Journal Article]
Hum Mutat 2000 Jul; 16(1):94.
Full Citation | Publisher Full Text | Find Related Articles | | Minucci A, Concolino P, Antenucci M, et al.
Description of a novel missense mutation of glucose-6-phosphate dehydrogenase gene associated with asymptomatic high enzyme deficiency. [JOURNAL ARTICLE]
Clin Biochem 2007 Apr 20.
Abstract | Full Citation | | Rocha H, Cabral A, Vilarinho L
Identification of a novel nonsense mutation (Q24X) in the glucose-6-phosphatase gene of a Portuguese patient with GSD Ia (von Gierke disease). [Case Reports, Journal Article]
Hum Mutat 2000 Nov; 16(5):449.
Full Citation | Publisher Full Text | Find Related Articles | | Manco L, Ribeiro ML
Novel human pathological mutations. Gene symbol: G6PD. Disease: glucose-6-phosphate dehydrogenase deficiency. [Journal Article]
Hum Genet 2007 Jun; 121(5):648.
Full Citation | Find Related Articles | | Manco L, Ribeiro ML
Novel human pathological mutations. Gene symbol: G6PD. Disease: glucose-6-phosphate dehydrogenase deficiency. [Journal Article]
Hum Genet 2007 Jun; 121(5):646.
Full Citation | Find Related Articles |   |
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