Novel deletion and a new missense mutation (Glu 217 Lys) at the catalytic site in two adenosine deaminase alleles of a patient with neonatal onset adenosine deaminase- severe combined immunodeficiency
Hirschhorn, R, Nicknam, MN, Eng, F, Yang, DR, Borkowsky, W
Published in The Journal of immunology (1950) (01.11.1992)
Published in The Journal of immunology (1950) (01.11.1992)
Get full text
Journal Article
Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency
Hirschhorn, Rochelle, Yang, Diana Ruixi, Puck, Jennifer M, Huie, Maryann L, Jiang, Chuan-Kui, Kurlandsky, Lawrence E
Published in Nature genetics (01.07.1996)
Published in Nature genetics (01.07.1996)
Get full text
Journal Article
Somatic mosaicism for a newly identified splice-site mutation in a patient with adenosine deaminase-deficient immunodeficiency and spontaneous clinical recovery
HIRSCHHORN, R, RUIXI YANG, D, AJAY ISRANI, HUIE, M. L, OWNBY, D. R
Published in American journal of human genetics (01.07.1994)
Get full text
Published in American journal of human genetics (01.07.1994)
Journal Article
Novel deletion and new missense mutation (Glu 217 Lys) at the catalytic site in two adenosine deaminase alleles of a patient with neonatal onset adenosine deaminase super(-) severe combined immunodeficiency
Hirschhorn, R, Nicknam, M N, Eng, Fay, Yang, Diana Ruixi, Borkowsky, W
Published in The Journal of immunology (1950) (01.01.1992)
Get full text
Published in The Journal of immunology (1950) (01.01.1992)
Journal Article
Homozygosity for a Missense Mutation (G20R) Associated with Neonatal Onset Adenosine Deaminase-Deficient Severe Combined Immunodeficiency (ADA-SCID)
Yang, Diana Ruixi, Huie, Maryann L., Hirschhorn, Rochelle
Published in Clinical immunology and immunopathology (01.02.1994)
Published in Clinical immunology and immunopathology (01.02.1994)
Get full text
Journal Article