A Possible New Variant of G-6-PD with Decreased Activity (G-6-PD-Utrecht) in a Dutch Family with Hereditary Spherocytosis

التفاصيل البيبلوغرافية
العنوان: A Possible New Variant of G-6-PD with Decreased Activity (G-6-PD-Utrecht) in a Dutch Family with Hereditary Spherocytosis
المؤلفون: G. E. J. Staal, K. Punt, Miss H. Bartstra, R. A. Geerdink, Miss C. C. Bos
المصدر: Scandinavian Journal of Haematology. 7:401-403
بيانات النشر: Wiley, 2009.
سنة النشر: 2009
مصطلحات موضوعية: Electrophoresis, Male, Genetics, Erythrocytes, Hot Temperature, Erythrocytes, Abnormal, Spherocytosis, Hereditary, Hematology, Glucosephosphate Dehydrogenase, New variant, Biology, medicine.disease, Pedigree, Hereditary spherocytosis, Kinetics, Glucosephosphate Dehydrogenase Deficiency, medicine, Humans, Female, Three generations
الوصف: Three generations of a Dutch family were studied in which two unrelated genetic abnormalities of the red cells were present, namely hereditary spherocytosis and a deficiency of G-6-PD. The physical and biological characteristics of the enzyme were determined. The G-6-PD variant differs from all other G-6-PD variants described in the literature. Preliminary it is given the name of G-6-PD-Utrecht.
تدمد: 0036-553X
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6800845a3e900ac26be2e8d838af12b0
https://doi.org/10.1111/j.1600-0609.1970.tb01921.x
حقوق: CLOSED
رقم الأكسشن: edsair.doi.dedup.....6800845a3e900ac26be2e8d838af12b0
قاعدة البيانات: OpenAIRE