A homozygous 5 base-pair deletion in exon 10 of the adenosine deaminase (ADA) gene in a child with severe combined immunodeficiency and very low levels of ADA mRNA and protein

Hum Mol Genet. 1993 Sep;2(9):1493-4. doi: 10.1093/hmg/2.9.1493.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adenosine Deaminase / deficiency
  • Adenosine Deaminase / genetics*
  • Base Sequence
  • DNA, Complementary / genetics
  • Homozygote
  • Humans
  • Infant
  • Male
  • Molecular Sequence Data
  • RNA, Messenger / genetics
  • RNA, Messenger / metabolism
  • Sequence Deletion*
  • Severe Combined Immunodeficiency / enzymology*
  • Severe Combined Immunodeficiency / genetics*

Substances

  • DNA, Complementary
  • RNA, Messenger
  • Adenosine Deaminase

Associated data

  • GENBANK/M13792