-
Identification of two new missense mutations (R156C and S291L) in two ADA- SCID patients unusual for response to therapy with partial exchange transfusions.
Department of Medicine, New York University Medical School, New York 10016.
PMID: 1284479 [PubMed - indexed for MEDLINE]
-
Cited by 2 PubMed Central articles
-
Novel splicing, missense, and deletion mutations in seven adenosine deaminase-deficient patients with late/delayed onset of combined immunodeficiency disease. Contribution of genotype to phenotype.
Santisteban I, Arredondo-Vega FX, Kelly S, Mary A, Fischer A, Hummell DS, Lawton A, Sorensen RU, Stiehm ER, Uribe L.
J Clin Invest. 1993 Nov; 92(5):2291-302.
[J Clin Invest. 1993]
-
Somatic mosaicism for a newly identified splice-site mutation in a patient with adenosine deaminase-deficient immunodeficiency and spontaneous clinical recovery.
Hirschhorn R, Yang DR, Israni A, Huie ML, Ownby DR.
Am J Hum Genet. 1994 Jul; 55(1):59-68.
[Am J Hum Genet. 1994]