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… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1980-2017
02419802017

Papers overview

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2013
2013
BACKGROUND RAS-coupled MAPK and PI3K pathways play a fundamental role in thyroid tumorigenesis, and classical genetic alterations… (More)
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2007
2007
BACKGROUND The survival motor neuron 1 (SMN1) gene has been recognized to be responsible for spinal muscular atrophy (SMA… (More)
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2006
2006
Many factors are involved in the pathogenesis of diabetic nephropathy. A single gene abnormality may be prerequisite but… (More)
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2005
2005
BACKGROUND Although the gastric well-differentiated adenocarcinoma in the distal stomach has been thought to develop via a… (More)
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2000
2000
Eleven Japanese hemophilia A patients with anti-factor VIII (FVIII) inhibitors were studied to localize both their inhibitory… (More)
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1999
1999
Patients with aplastic anaemia (AA) frequently develop paroxysmal nocturnal haemoglobinuria (PNH) as a late complication. We… (More)
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1999
1999
AIMS The gene mutated in ataxia-telangiectasia (A-T), designated ATM (for "A-T mutated"), is believed to be associated with an… (More)
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1998
1998
On dystrophin gene analysis by multiplex polymerase chain reaction (PCR), 76 of 130 (58.5%) Japanese patients with Duchenne… (More)
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1996
1996
To investigate the association of mutations in the arginine vasopressin receptor type II (V2R) gene with congenital nephrogenic… (More)
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1990
1990
We report the molecular characterization of a Japanese Duchenne muscular dystrophy (DMD) patient. The analysis of genomic gene by… (More)
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