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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… 
National Institutes of Health

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Acute Myeloid Leukemia with FLT3/ITD MutationAcute Myeloid Leukemia with Gene MutationsAcute Myeloid Leukemia with Mutated CEBPAAcute Myeloid Leukemia with Mutated NPM1

Papers overview

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2014
2014
434 Bipolar androgen therapy for men with castration sensitive and castration resistant prostate cancer: Reversing resistance and maintaining sensitivity to androgen ablative therapies
Highly Cited
1999
Highly Cited
1999
CD59‐deficient blood cells and PIG‐A gene abnormalities in Japanese patients with aplastic anaemia
Patients with aplastic anaemia (AA) frequently develop paroxysmal nocturnal haemoglobinuria (PNH) as a late complication. We… 
1998
1998
A novel mutation of coproporphyrinogen oxidase (CPO) gene in a Japanese family
AbstractHereditary coproporphyria (HCP) is an autosomal dominant disease characterized by a deficiency of coproporphyrinogen… 
1997
1997
Apoptosis in the Pancreas of Genetically Diabetic Rats with a Disrupted Cholecystokinin (CCK‐A) Receptor Gene
In a previous study, we reported that the pancreatic wet weight in Otsuka Long-Evans Tokushima Fatty (OLETF) rats… 
1996
1996
Detection of cone alpha transducin mRNA in human fetal cochlea: negative mutation analysis in Usher syndrome
1995
1995
A point mutation, C to T, in exon 8 of the porphobilinogen deaminase gene in a Japanese family with acute intermittent porphyria
SummaryAcute intermittent porphyria (AIP) is an autosomal dominant disease characterized by a deficiency of porphobilinogen… 
1990
1990
The urea cycle in the rett syndrome
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