• Mutation; HGNC; HGNC:4135; GALT; Simple; p.Asn314Asp (c.940A>G); ClinVar=VCV000003613; Zygosity=Heterozygous (Coriell=GM01996).
  

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=891264; DOI=10.1159/000130797
Donnell G.N., Ng W.G., Alfi O.S., Greene A.E., Coriell L.L.
Duarte variant-galactosemia heterozygote. Repository identification No. GM-1996.
Cytogenet. Cell Genet. 19:53-54(1977)

PubMed=1766867; DOI=10.1093/nar/19.25.7049; PMCID=PMC332510
Reichardt J.K.V.
Molecular analysis of 11 galactosemia patients.
Nucleic Acids Res. 19:7049-7052(1991)

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)