• Mutation; HGNC; HGNC:186; ADA; Simple; p.Leu107Pro (c.320T>C); ClinVar=VCV000001965; Zygosity=Heterozygous (PubMed=1346349).
  

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)

PubMed=1680289; PMCID=PMC1683191
Rochelle Hirschhorn, Vijay Chakravarti, Jennifer M. Puck, Steven D. Douglas;
Homozygosity for a newly identified missense mutation in a patient with very severe combined immunodeficiency due to adenosine deaminase deficiency (ADA-SCID).
Am. J. Hum. Genet. 49:878-885(1991)

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=1346349; DOI=10.1002/ajmg.1320420213
Rochelle Hirschhorn, Amy Ellenbogen, Stephanie Tzall;
Five missense mutations at the adenosine deaminase locus (ADA) detected by altered restriction fragments and their frequency in ADA- patients with severe combined immunodeficiency (ADA- SCID).
Am. J. Med. Genet. 42:201-207(1992)