- Tytuł:
- Common variant of human NEDD4L activates a cryptic splice site to form a frameshifted transcript.
- Autorzy:
- Źródło:
- Journal of human genetics [J Hum Genet] 2002; Vol. 47 (12), pp. 665-76.
- Typ publikacji:
- Journal Article; Research Support, U.S. Gov't, P.H.S.
- MeSH Terms:
-
Alternative Splicing*
Frameshift Mutation*
Polymorphism, Genetic*Ubiquitin -Protein Ligases *
Calcium-Binding Proteins/*genetics
Chromosomes, Human, Pair 18/*genetics
Hypertension/*geneticsLigases /*genetics
Amino Acid Sequence ; Endosomal Sorting Complexes Required for Transport ; Exons ; Humans ; Hypertension/physiopathology ; Introns/genetics ; Kidney/metabolism ; Molecular Sequence Data ; Nedd4Ubiquitin Protein Ligases ; Reverse Transcriptase Polymerase Chain Reaction ; Sequence Analysis, DNA ; Sequence Homology, Amino Acid ; Tissue Distribution
Czasopismo naukowe