Mutations of UFD1L are not responsible for the majority of cases of DiGeorge Syndrome/velocardiofacial syndrome without deletions within chromosome 22q11

Am J Hum Genet. 1999 Jul;65(1):247-9. doi: 10.1086/302468.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adaptor Proteins, Vesicular Transport
  • Chromosomes, Human, Pair 22*
  • DiGeorge Syndrome / genetics*
  • Gene Deletion
  • Genetic Testing
  • Humans
  • Intracellular Signaling Peptides and Proteins
  • Polymorphism, Genetic
  • Polymorphism, Single-Stranded Conformational
  • Proteins / genetics*

Substances

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

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