UFD1L is not the monogenic basis for heart defects associated with the CATCH phenotype

Mol Med Today. 2000 Jan;6(1):14. doi: 10.1016/s1357-4310(99)01637-8.
No abstract available

Publication types

  • Letter

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Adaptor Proteins, Vesicular Transport
  • Animals
  • Chromosome Deletion
  • Chromosomes, Human, Pair 22
  • Heart Defects, Congenital / genetics*
  • Humans
  • Intercellular Signaling Peptides and Proteins
  • Intracellular Signaling Peptides and Proteins
  • Mice
  • Phenotype
  • Proteins / genetics*
  • Syndrome

Substances

  • Adaptor Proteins, Vesicular Transport
  • Intercellular Signaling Peptides and Proteins
  • Intracellular Signaling Peptides and Proteins
  • Proteins
  • UFD1 protein, human
  • Ufd1 protein, mouse