• Mutation; HGNC; 4135; GALT; Simple; p.Gln188Arg (c.563A>G); ClinVar=VCV000003614; Zygosity=Heterozygous (Coriell=GM01533).
  

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=2498246; DOI=10.1111/j.1349-7006.1989.tb02278.x; PMCID=PMC5917704
Koi M., Morita H., Shimizu M., Oshimura M.
Construction of mouse A9 clones containing a single human chromosome (X/autosome translocation) via micro-cell fusion.
Jpn. J. Cancer Res. 80:122-125(1989)

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=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)