• Mutation; HGNC; HGNC:5024; HNF4A; Simple; p.Gln277Ter (c.829C>T) (Q268*); ClinVar=VCV000009210; Zygosity=Heterozygous (PubMed=8945471).
  

DOI=10.5962/bhl.title.4090
Lewis Lemon Coriell, Arthur E. Greene;
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
Richard A. Mulivor, Sharon F. Suchy;
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=8945471; DOI=10.1038/384458a0
Kazuya Yamagata, Hiroto Furuta, Naohisa Oda, Pamela J. Kaisaki, Stefan Menzel, Nancy Jean Cox, Stefan S. Fajans, Stefano Signorini, Markus Stoffel, Graeme I. Bell;
Mutations in the hepatocyte nuclear factor-4alpha gene in maturity-onset diabetes of the young (MODY1).
Nature 384:458-460(1996)