Missense mutations and gene interruption in PROSIT240, a novel TRAP240-like gene, in patients with congenital heart defect (transposition of the great arteries). [electronic resource]
Producer: 20040105Description: 2843-50 p. digitalISSN:- 1524-4539
- Abnormalities, Multiple -- genetics
- Adaptor Proteins, Signal Transducing
- Amino Acid Sequence
- Aorta -- metabolism
- Carrier Proteins -- genetics
- Cerebellar Ataxia -- genetics
- Cerebellum -- abnormalities
- Child
- Chromosome Deletion
- Chromosomes, Human, Pair 12 -- genetics
- Chromosomes, Human, Pair 17 -- genetics
- Chromosomes, Human, Pair 22 -- genetics
- Cohort Studies
- Female
- Heart Defects, Congenital -- genetics
- Humans
- Intellectual Disability -- genetics
- Mediator Complex
- Microcephaly -- genetics
- Molecular Sequence Data
- Multigene Family
- Mutation, Missense
- Organ Specificity
- Sequence Alignment
- Sequence Homology, Amino Acid
- Translocation, Genetic
- Transposition of Great Vessels -- genetics
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Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
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