Results for:
"
Phenotype
" in Documents
- Not All hERG pore domain mutations have a severe phenotype: G584S has ...
- INTRODUCTION: Mutations in the pore domain of the human ether-a-go-go-related gene (hERG) potassium channel are associated with higher risk of sudden death. However, in many kindreds clinical presenta...
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Uploaded: 2009-6-6
- Characterizing the metabolic phenotype: a phenotype phase plane analys...
- Genome-scale metabolic maps can be reconstructed from annotated genome sequence data, biochemical literature, bioinformatic analysis, and strain-specific information. Flux-balance analysis has been us...
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Uploaded: 2001-12-18
- Genotype, molecular phenotype, and cognitive phenotype: correlations i...
- The study of the neurobehavioral consequences of mutations of FMR1, the gene responsible for fragile X syndrome (FraX), has been based largely on correlations between mutation patterns and cognitive p...
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Uploaded: 1999-4-20
- Phenotype and genotype expression in pseudohomozygous factor VLEIDEN :...
- The presence of a DNA mutation is frequently used to define a disease or a risk state. Because DNA typing has become easy and convenient in contrast to protein characterization, it is generally assume...
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Uploaded: 1999-2-12
- Acetylation phenotype and cytochrome P450IA2 phenotype are unlikely to...
- The hypothesis that cytochrome P450IA2 (CYPIA2) and/or N-acetyltransferase 2 (NAT2) may be involved in the pathogenesis of peripheral arterial disease was investigated in 90 Australian patients with s...
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Uploaded: 1993-9-1
- Clinical phenotype correlates to glycoprotein phenotype in a sib pair ...
- Congenital disorder of glycosylation (CDG) type Ia (PMM2 mutations) is the most common genetic disorder of protein N-glycosylation. The wide clinical spectrum with mild to severe impairment of neurolo...
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Uploaded: 2008-7-17
- Severe musculoskeletal phenotype associated with an unbalanced t(6;10)...
- Larsen syndrome is a congenital condition consisting of multiple large joint dislocations associated with a distinctive facial appearance and frequently other abnormalities. The syndrome is probably g...
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Uploaded: 2003-6-5
- The phenotype in de novo and familial pericentric inversion 6. A probl...
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Uploaded: 1982-1-1