Genetic variation and clinical heterogeneity in cystic fibrosis

Cystic fibrosis (CF), a lethal genetic disease, is characterized by substantial clinical heterogeneity. Work over the past decade has established that much of the variation is genetically conferred, and recent studies have begun to identify chromosomal locations that identify specific genes as contr...

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Veröffentlicht in:	Annual review of pathology 2012-01, Vol.7 (1), p.267-282
Hauptverfasser:	Drumm, Mitchell L, Ziady, Assem G, Davis, Pamela B
Format:	Artikel
Sprache:	eng
Schlagworte:	Apoptosis Cystic fibrosis Cystic Fibrosis - genetics Cystic Fibrosis - metabolism Cystic Fibrosis Transmembrane Conductance Regulator - genetics Data processing Exploration Genetic diversity Genetic Variation Genome-Wide Association Study Humans Oxidative stress proteomics Sampling Transcription
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