When the Message Goes Awry: Disease-Producing Mutations that Influence mRNA Content and Performance

Mutations that cause disease commonly occur in the coding sequence and directly influence protein structure and function. However, many diseases result from mutations that influence various aspects of mRNA metabolism, including processing, export, stability, and translational control.

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Bibliographische Detailangaben
Veröffentlicht in:	Cell 2001-11, Vol.107 (4), p.411-414
Hauptverfasser:	Mendell, Joshua T, Dietz, Harry C
Format:	Artikel
Sprache:	eng
Schlagworte:	3' Untranslated Regions - genetics 5' Untranslated Regions - genetics Alleles Animals Codon, Nonsense Gene Expression Regulation - genetics Genes, BRCA1 Genetic Diseases, Inborn - genetics Humans Muscular Dystrophies - genetics Open Reading Frames - genetics Protein Biosynthesis - genetics Regulatory Sequences, Nucleic Acid - genetics RNA Caps - genetics RNA Processing, Post-Transcriptional - genetics RNA Splicing - genetics RNA, Messenger - genetics RNA, Messenger - metabolism
Online-Zugang:	Volltext
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Beschreibung
Zusammenfassung:	Mutations that cause disease commonly occur in the coding sequence and directly influence protein structure and function. However, many diseases result from mutations that influence various aspects of mRNA metabolism, including processing, export, stability, and translational control.
ISSN:	0092-8674 1097-4172
DOI:	10.1016/S0092-8674(01)00583-9