• Mutation; HGNC; HGNC:4057; G6PD; Simple; p.Ser188Phe (c.653C>T); ClinVar=VCV000100057; Zygosity=Hemizygous (PubMed=7803800).
  

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)

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)

PubMed=10377420; DOI=10.1073/pnas.96.13.7364; PMCID=PMC22091
Carrel L., Willard H.F.
Heterogeneous gene expression from the inactive X chromosome: an X-linked gene that escapes X inactivation in some human cell lines but is inactivated in others.
Proc. Natl. Acad. Sci. U.S.A. 96:7364-7369(1999)