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

PubMed=2567118
Tzall S., Ellenbogen A., Eng F., Hirschhorn R.
Identification and characterization of nine RFLPs at the adenosine deaminase (ADA) locus.
Am. J. Hum. Genet. 44:864-875(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) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992)

PubMed=16260726; DOI=10.1073/pnas.0508390102
Harris S.L., Gil G., Robins H., Hu W.-W., Hirshfield K.M., Bond E., Bond G., Levine A.J.
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
Hou L., Chen M., Jiang B., Ng J., Hurley C.K.
African Americans exhibit a predominant allele in the midst of extensive KIR2DL1 allelic diversity.
Tissue Antigens 76:31-34(2010)