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Gene Abnormality

A variation in or modification of the nucleic acid sequence of a gene that can alter its expression and may result in either a congenital disorder or… Expand
National Institutes of Health

Papers overview

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2014
2014
Material and Methods: Cell proliferation of a panel of 240 human tumorderived cell lines was measured by the signal intensity of… Expand
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1999
1999
Patients with aplastic anaemia (AA) frequently develop paroxysmal nocturnal haemoglobinuria (PNH) as a late complication. We… Expand
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1998
1998
AbstractHereditary coproporphyria (HCP) is an autosomal dominant disease characterized by a deficiency of coproporphyrinogen… Expand
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Review
1998
Review
1998
The Second International Symposium on Acute Promyelocytic Leukemia (APL) was held in Rome in 12–14 November 1997. Clinical and… Expand
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1997
1997
In a previous study, we reported that the pancreatic wet weight in Otsuka Long-Evans Tokushima Fatty (OLETF) rats… Expand
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1996
1996
Cone alpha transducin (GNAT2), known to be expressed in photoreceptors, was found to be transcribed in human fetal cochlea. Due… Expand
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1995
1995
SummaryAcute intermittent porphyria (AIP) is an autosomal dominant disease characterized by a deficiency of porphobilinogen… Expand
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1990
1990
The in vivo functioning of the urea cycle in the Rett syndrome (RS) was investigated using alanine load test. The test was… Expand
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