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.

Ramser, Juliane

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] - Human molecular genetics Apr 2005 - 1019-27 p. digital

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.

0964-6906

10.1093/hmg/ddi094 doi


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