A premature termination codon within an alternative exon affecting only the metabolism of transcripts that retain this exon.

Maillet, P

A premature termination codon within an alternative exon affecting only the metabolism of transcripts that retain this exon. [electronic resource] - Human mutation 1999 - 145-55 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1059-7794

10.1002/(SICI)1098-1004(1999)14:2<145::AID-HUMU6>3.0.CO;2-L doi


Alternative Splicing--genetics
Cell Differentiation--genetics
Codon, Nonsense--genetics
Codon, Terminator--genetics
Cytoskeletal Proteins
DNA Mutational Analysis
Elliptocytosis, Hereditary--genetics
Erythrocytes--metabolism
Exons--genetics
Female
Frameshift Mutation--genetics
France
Gene Expression Regulation--genetics
Genetic Markers--genetics
Humans
Male
Membrane Proteins--deficiency
Neuropeptides
Pedigree
Polymorphism, Genetic
RNA Precursors--genetics
Reverse Transcriptase Polymerase Chain Reaction
Sequence Deletion
Transcription, Genetic