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

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)

PubMed=1680289
Hirschhorn R., Chakravarti V., Puck J., Douglas S.D.
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
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=1346349; DOI=10.1002/ajmg.1320420213
Hirschhorn R., Ellenbogen A., Tzall S.
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)