• Mutation; HGNC; HGNC:186; ADA; Simple; p.Arg76Trp (c.226C>T); ClinVar=VCV000001962; Zygosity=Heterozygous (Coriell=GM05817).
  

PubMed=2567118; PMCID=PMC1715668
Stephanie Tzall, Amy Ellenbogen, Fay Eng, Rochelle Hirschhorn;
Identification and characterization of nine RFLPs at the adenosine deaminase (ADA) locus.
Am. J. Hum. Genet. 44:864-875(1989)

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=16260726; DOI=10.1073/pnas.0508390102; PMCID=PMC1283473
Sandra L. Harris, German Gil, Harlan Robins, Wen-Wei Hu, Kim Marie Hirshfield, Elisabeth Bond, Gareth Bond, Arnold Jay Levine;
Detection of functional single-nucleotide polymorphisms that affect apoptosis.
Proc. Natl. Acad. Sci. U.S.A. 102:16297-16302(2005)

PubMed=20210923; DOI=10.1111/j.1399-0039.2010.01460.x; PMCID=PMC3474317
Lin Hou, Ming-Hua Chen, Bo Jiang, Jennifer Ng, Carolyn Katovich Hurley;
African Americans exhibit a predominant allele in the midst of extensive KIR2DL1 allelic diversity.
Tissue Antigens 76:31-34(2010)