Publication

Hirschhorn R, Yang DR, Israni A, An Asp8Asn substitution results in the adenosine deaminase (ADA) genetic polymorphism (ADA 2 allozyme): occurrence on different chromosomal backgrounds and apparent intragenic crossover. Ann Hum Genet58 ( Pt 1):1-9 1994
PubMed ID: 8031011

Records Return:  (2) Show
 
Catalog IDGenderAge at SamplingFamilyRelationshipDescription
GM01390Male3 MO2974probandSEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY
GM07037Female 13291paternal grandmotherCEPH/UTAH PEDIGREE 13291