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A new glucose 6 phosphate dehydrogenase variant, G6PD Sinnai (34 G→T)
Author(s) -
Galanello Renzo,
Loi Daniela,
Sollaino Carla,
Dessì Sandra,
Cao Antonio,
Melis Maria Antonietta
Publication year - 1998
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(1998)12:1<72::aid-humu19>3.0.co;2-t
Subject(s) - biology , long qt syndrome , recombination fraction , genetics , locus (genetics) , point mutation , mutation , sodium channel , phenotype , gene , sudden death , qt interval , medicine , chromosome , gene mapping , sodium , chemistry , organic chemistry
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 amino acid substitution at codon 12. We designated this variant as G6PD Sinnai from the place of birth of the propositus. Hum Mutat 12:72–73, 1998. © 1998 Wiley‐Liss, Inc.