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Table 2 Summary of mutations detected in 110 deficient Saudi patients in Jeddah and the frequency of 1311T and IVS-XI-93C polymorphisms.

From: Molecular characterization of glucose-6-phosphate dehydrogenase deficiency in Jeddah, Kingdom of Saudi Arabia

G6PD Variants Mutation Amplified Exon/Intron Number of Patients and
Percentage [n (%)]
Mediterranean c.563 C > T 6 98 (89.1%)
Aures c.143 T > C 3 11 (10.0%)
G6PD A ¯ c.202 G > A 4 0 (0%)
  c.376 A > G 5 0 (0%)
Chatham c.1003 G > A 9 1 (0.9%)
Polymorphism
(33 chromosomes of 25 males and 4 females)
c. 1311T 11 14 (42.4%)
  IVS-XI-93C Intron 11 21 (63.6)
  1311T/IVS-XI-93C Exon/intron 11 14 (42.4%)
  1. Abbreviations: A, alanine; C, cysteine; G, glycine; G6PD, glucose-6-phosphate dehydrogenase; T, threonine