𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A new glucose 6 phosphate dehydrogenase variant, G6PD Sinnai (34 G→T)

✍ Scribed by Renzo Galanello; Daniela Loi; Carla Sollaino; Sandra Dessì; Antonio Cao; Maria Antonietta Melis

Publisher
John Wiley and Sons
Year
1998
Tongue
English
Weight
31 KB
Volume
12
Category
Article
ISSN
1059-7794

No coin nor oath required. For personal study only.

✦ Synopsis

In this paper we report a male infant heterozygous for -thalassemia with a mild glucose 6 phosphate dehydrogenase deficiency. The molecular basis of this new Class III G6PD variant is a G->T mutation at nucleotide 34 in the exon 2, which predicts a Val->Leu aminoacid substitution at codon 12. We designated this variant as G6PD Sinnai from the place of birth of the propositus.

📜 SIMILAR VOLUMES

Glucose-6-phosphate dehydrogenase (G6PD)
Glucose-6-phosphate dehydrogenase (G6PD) variants in Malaysian Chinese
✍ O. Ainoon; J. Joyce; N.Y. Boo; S.K. Cheong; Z.A. Zainal; N.H. Hamidah 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 31 KB 👁 1 views

We screened 38 G6PD-deficient male Chinese neonates for known G6PD mutations using established PCR-based techniques. We found 50.0% (19 of 38) were mutation 1376G>T, 34.2% (13 of 38) were mutation 1388G>A, 5.2% (2 of 38 ) were mutation 95A>G and 2.2% (1 of 38) was mutation 1024C>T. In 7% (3 of 38) o

Two new glucose-6 phosphate dehydrogenas
Two new glucose-6 phosphate dehydrogenase (G6PD) variants associated with hemolytic anemia: G6PD amman-1 and G6PD amman-2
✍ Dr. Naif S. Karadsheh; A. S. Awidi; M. S. Tarawneh 📂 Article 📅 1986 🏛 John Wiley and Sons 🌐 English ⚖ 385 KB 👁 2 views

Two glucose-6-phosphate dehydrogenase (G6PD) variants were investigated. G6PD Amman-1 was partially purified from the red cells of a patient suffering from recurrent jaundice and spontaneous episodic attacks of severe hemolysis in the absence of oxidant drugs, infection, or fava beans. The enzymatic