A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor. [electronic resource]
Producer: 20050816Description: 1019-27 p. digitalISSN:- 0964-6906
- Alternative Splicing
- Amino Acid Sequence
- Enhancer Elements, Genetic
- Epilepsy -- genetics
- Exons
- Female
- Humans
- Male
- X-Linked Intellectual Disability -- genetics
- Molecular Sequence Data
- Mutation
- Pedigree
- Receptors, Cell Surface -- genetics
- Renin-Angiotensin System -- genetics
- Vacuolar Proton-Translocating ATPases -- genetics
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Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
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