• Mutation; HGNC; 4118; GALK1; Simple; p.Val32Met (c.94G>A); ClinVar=VCV000005628; Zygosity=Heterozygous (PubMed=7670469).
  

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=7670469; DOI=10.1038/ng0795-307
Stambolian D.E., Ai Y.-J., Sidjanin D., Nesburn K., Sathe G., Rosenberg M., Bergsma D.J.
Cloning of the galactokinase cDNA and identification of mutations in two families with cataracts.
Nat. Genet. 10:307-312(1995)