Publication

Akeson AL, Wiginton DA, States JC, Perme CM, Dusing MR, Hutton JJ, Mutations in the human adenosine deaminase gene that affect protein structure and RNA splicing. Proc Natl Acad Sci U S A84:5947-51 1987
PubMed ID: 3475710

Records Return:  (6) Show
 
Catalog IDGenderAge at SamplingFamilyRelationshipDescription
GM00130Male25 YR700probandAPPARENTLY HEALTHY NON-FETAL TISSUE
GM02184Male36 YR455probandAPPARENTLY HEALTHY NON-FETAL TISSUE
GM02825Female4 MO446probandSEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY
GM01715Male3 YR423probandSEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY
GM02471Male 219probandSEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY
GM02756Male3 YR probandSEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY