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G6PD TOMAH

MedGen UID:
864959
•Concept ID:
C4016522
•
Finding
OMIM®: 305900

Recent clinical studies

Etiology

Molecular genetics of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Spain: identification of two new point mutations in the G6PD gene.
Rovira A, Vulliamy T, Pujades MA, Luzzatto L, Corrons JL
Br J Haematol 1995 Sep;91(1):66-71. doi: 10.1111/j.1365-2141.1995.tb05246.x. PMID: 7577654

Diagnosis

Genetic Profiles of Korean Patients With Glucose-6-Phosphate Dehydrogenase Deficiency.
Lee J, Park J, Choi H, Kim J, Kwon A, Jang W, Chae H, Kim M, Kim Y, Lee JW, Chung NG, Cho B
Ann Lab Med 2017 Mar;37(2):108-116. doi: 10.3343/alm.2017.37.2.108. PMID: 28028996Free PMC Article

Prognosis

Genetic Profiles of Korean Patients With Glucose-6-Phosphate Dehydrogenase Deficiency.
Lee J, Park J, Choi H, Kim J, Kwon A, Jang W, Chae H, Kim M, Kim Y, Lee JW, Chung NG, Cho B
Ann Lab Med 2017 Mar;37(2):108-116. doi: 10.3343/alm.2017.37.2.108. PMID: 28028996Free PMC Article

Clinical prediction guides

Genetic Profiles of Korean Patients With Glucose-6-Phosphate Dehydrogenase Deficiency.
Lee J, Park J, Choi H, Kim J, Kwon A, Jang W, Chae H, Kim M, Kim Y, Lee JW, Chung NG, Cho B
Ann Lab Med 2017 Mar;37(2):108-116. doi: 10.3343/alm.2017.37.2.108. PMID: 28028996Free PMC Article

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