Article
Isolation of a gene encoding an integral membrane protein from the vicinity of a balanced translocation breakpoint associated with DiGeorge syndrome.
Human molecular genetics - 1 Jun 1995
Wadey R, Daw S, Taylor C, Atif U, Kamath S, Halford S, O'Donnell H, Wilson D, Goodship J, Burn J
Abstract excerpt
Deletions within 22q11 have been associated with a wide variety of birth defects embraced by the acronym CATCH22 and including the DiGeorge syndrome, Shprintzen syndrome (velocardiofacial syndrome) and congenital heart disease. It is not known how many genes contribute to this phenotype. Previous studies have shown that a balanced translocation disrupts sequences within the shortest region of deletion overlap for...
Topics
- Amino Acid Sequence
- Bacteriophage P1
- Chromosome Mapping
- Chromosomes, Human, Pair 22
- DNA, Complementary
- DiGeorge Syndrome
- Female
- Gene Library
- Humans
- Membrane Proteins