• Mutation; HGNC; HGNC:4057; G6PD; Simple; p.Asn126Asp (c.376A>G) (p.Asn156Asp, c.466A>G); ClinVar=VCV000100055; Zygosity=Heterozygous (PubMed=7803800).
  

PubMed=4502820; DOI=10.1038/newbio236149a0
Gartler S.M., Chen S.-H., Fialkow P.J., Giblett E.R., Singh S.
X chromosome inactivation in cells from an individual heterozygous for two X-linked genes.
Nat. New Biol. 236:149-150(1972)

DOI=10.5962/bhl.title.4090
Coriell L.L., Greene A.E.
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 4th edition. October 1977.
(In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977)

PubMed=6156493; DOI=10.1007/BF01538795
Willard H.F., Breg W.R.
Human X chromosomes: synchrony of DNA replication in diploid and triploid fibroblasts with multiple active or inactive X chromosomes.
Somatic Cell Genet. 6:187-198(1980)

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

PubMed=7803800; DOI=10.1182/blood.V85.1.257.bloodjournal851257
Xu W.-M., Westwood B., Bartsocas C.S., Malcorra-Azpiazu J.J., Indrak K., Beutler E.
Glucose-6 phosphate dehydrogenase mutations and haplotypes in various ethnic groups.
Blood 85:257-263(1995)