Skip to main content

Table 2 Mutations reported in the Chinese patients with GPI deficiency

From: Hereditary nonspherocytic hemolytic anemia caused by glucose-6-phosphate isomerase (GPI) deficiency in a Chinese patient: a case report

Case

Exon

Mutation

Consequence

Zygosity

Reference

1

7

18

c.637 T > A

c.1614C > G

p.Phe213Ile

p.His538Gln

Compound heterozygous

[19]

2

6

c.553 T > A

p.Phe185Ile

Homozygous

[21]

3

6

10

c.490C > A

c.817C > T

p.Pro164Thr

p.Arg273Cys

Compound heterozygous

[22]

4

4

10

c.301G > A

c.812delG

p.Val101Met

p.Gly271Glufs*131

Compound heterozygous

current case