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Bollen, A. et al. A conditionally lethal mutation of Escherichia coli affecting the gene coding for ribosomal protein S2 (rpsB).
Cystic fibrosis phenotype heterogeneity cannot be directly attributed to the type of mutation affecting the gene encoding the CFTR protein.
Duchenne muscular dystrophy (DMD) is a pediatric, X-linked, progressive muscle-wasting disorder caused by loss of function mutations affecting the gene encoding the dystrophin protein.
Hence, it remains unclear whether the associated SNPs are in the LD with a yet unknown causal variant or are themselves functional by affecting the gene expression.
The molecular structure of haptoglobin is determined in humans by the existence of a polymorphism affecting the gene on chromosome 16q22 that encodes the α chain of this globulin.
In an attempt to determine whether HMGCR is directly involved in the control of this dimorphism, we quantified the locomotor activity of flies carrying a homozygous mutation affecting the gene hmgcr.
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An optimized ratio (1∶20) of 18S rRNA primers was added to the reaction as endogenous standard along with competimer to modulate 18S amplification without affecting the gene-specific PCR targets.
This supports the notion that ERK1 and ERK2 may have distinct functions during embryogenesis by affecting the gene-expression of common and distinct genes sets during vertebrate development.
Current approaches focus on direct changes in protein coding genes, particularly nonsynonymous mutations that directly affect the gene product.
Biotin supplementation did not affect the gene expression of PC, PCC, and PEPCK.
Or, to ask basic questions about brain function, one could study how stimulating one neuron affects the gene expression of a neuron it communicates with through a synapse.
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