The use of Allelic Expression Differences to Ascertain Functional Polymorphisms Acting in cis: Analysis of MMP1 Transcripts in Normal Lung Tissue

Summary Aberrant expression of matrix metalloproteinase 1 (MMP1) has been implicated in a number of pathological conditions of the lung. In vitro results and analysis of tumours and cell lines suggest that an insertion/deletion polymorphism at position ‐1607 in the promoter of the gene can influence...

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Veröffentlicht in:	Annals of human genetics Jg. 69; H. 1; S. 127 - 133
Hauptverfasser:	Heighway, J., Bowers, N. L., Smith, S., Betticher, D. C., Santibáñez Koref, M. F.
Format:	Journal Article
Sprache:	Englisch
Veröffentlicht:	350 Main Street , Malden , MA 02148 , USA , and 9600 Garsington Road , Oxford OX4 2DQ , UK Blackwell Science Ltd 01.01.2005
Schlagworte:	Alleles allelic expression Gene Frequency Genetic Predisposition to Disease Genotype Heterozygote Humans linkage disequilibrium lung Lung - metabolism mapping Matrix Metalloproteinase 1 - genetics MMP1 polymorphism Polymorphism, Single Nucleotide Promoter Regions, Genetic - genetics
ISSN:	0003-4800, 1469-1809
Online-Zugang:	Volltext
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