Hemizygote

Known as: Hemizygotes 
An individual having only one allele at a given locus because of the loss of the other allele through a mutation (e.g., CHROMOSOME DELETION).
National Institutes of Health

Papers overview

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Highly Cited
2009
Highly Cited
2009
By analyzing late-onset Alzheimer's disease (LOAD) in a genome-wide association study (313,504 SNPs, three series, 844 cases and… (More)
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2005
2005
BACKGROUND Fabry disease is an X-linked lysosomal storage disorder resulting from a deficiency of the lysosomal hydrolase, alpha… (More)
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Highly Cited
2001
Highly Cited
2001
Utilizing the plasma very long chain fatty acid assay, supplemented by mutation analysis and immunofluorescence assay, we… (More)
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Highly Cited
2001
Highly Cited
2001
Intercellular signaling by fibroblast growth factors plays vital roles during embryogenesis. Mice deficient for fibroblast growth… (More)
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Highly Cited
2001
Highly Cited
2001
Anderson–Fabry disease is a rare, X-chromosomal lipid storage disorder caused by a deficiency of lysosomal α-galactosidase A… (More)
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Highly Cited
1999
Highly Cited
1999
The assay of plasma very long chain fatty acids (VLCFAs), developed in our laboratory in 1981, has become the most widely used… (More)
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Highly Cited
1998
Highly Cited
1998
Green fluorescent protein (GFP) and its variants currently represent the only non-invasive markers available for labeling… (More)
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Review
1998
Review
1998
 Glucose-6-phosphate dehydrogenase (G6PD) is a cytoplasmic enzyme that is essential for a cell’s capacity to withstand oxidant… (More)
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Highly Cited
1995
Highly Cited
1995
GLUCOSES-PHOSPHATE dehydrogeiiase (G6PD) deficiency, the most common enzymopathy of humans, affects over 400 million people1. The… (More)
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Highly Cited
1981
Highly Cited
1981
With a new method we measured the saturated very long chain fatty acids in the plasma of adrenoleukodystrophy (ALD) hemizygotes… (More)
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