Splice-Site Mutation

Known as: Intron Splice Site Mutation, Intronic Splice Site Mutation, Splice-Site Mutation Abnormality 
Any mutation that occurs within the discrete sequences comprising the 5' or 3' splice sites of a gene that has a spliced message. Splice-site… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1991-2017
010203019912017

Papers overview

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Highly Cited
2008
Highly Cited
2008
BACKGROUND Left ventricular noncompaction constitutes a primary cardiomyopathy characterized by a severely thickened, 2-layered… (More)
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Highly Cited
2006
Highly Cited
2006
Null mutations in the progranulin gene (PGRN) were recently reported to cause tau-negative frontotemporal dementia linked to… (More)
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Highly Cited
2004
Highly Cited
2004
Rett syndrome (RTT) is a severe neurodevelopmental disorder caused, in most classic cases, by mutations in the X-linked methyl… (More)
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Highly Cited
2002
Highly Cited
2002
CONTEXT Missense mutations in the GABRG2 gene, which encodes the gamma 2 subunit of central nervous gamma-aminobutyric acid (GABA… (More)
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Highly Cited
2001
Highly Cited
2001
Studies of genetically engineered flies and mice have revealed the role that orthologs of the human LIM homeobox LHX4 have in the… (More)
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Highly Cited
1999
Highly Cited
1999
Primary systemic carnitine deficiency (SCD; OMIM 212140) is an autosomal recessive disorder characterized by progressive… (More)
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Highly Cited
1998
Highly Cited
1998
Idiopathic generalized epilepsies account for about 40% of epilepsy up to age 40 and commonly have a genetic basis. One type is… (More)
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Highly Cited
1998
Highly Cited
1998
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterized by tumors of the parathyroids… (More)
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Highly Cited
1997
Highly Cited
1997
Ulnar-mammary syndrome is a rare pleiotropic disorder affecting limb, apocrine gland, tooth and genital development. We… (More)
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1997
1997
McArdle's disease is an autosomal recessive myopathy with symptoms of exercise intolerance caused by deficiency of the enzyme… (More)
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