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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… Expand
National Institutes of Health

Papers overview

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Highly Cited
2013
Highly Cited
2013
We report that hypofunctional alleles of WNT1 cause autosomal-recessive osteogenesis imperfecta, a congenital disorder… Expand
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Highly Cited
2010
Highly Cited
2010
Primary hyperoxaluria (PH) is an autosomal-recessive disorder of endogenous oxalate synthesis characterized by accumulation of… Expand
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Highly Cited
2010
Highly Cited
2010
Tissue-specific alternative splicing is an important mechanism for providing spatiotemporal protein diversity. Here we show that… Expand
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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… Expand
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Highly Cited
2000
Highly Cited
2000
Usher syndrome type 1 (USH1) is an autosomal recessive sensory defect involving congenital profound sensorineural deafness… Expand
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Highly Cited
2000
Highly Cited
2000
We present a systematic comparison of three modules that enhance expression from retroviral gene transfer vectors at a… Expand
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Highly Cited
2000
Highly Cited
2000
Approximately 0.5%-1% of the general population has been estimated to be heterozygous for a germline mutation in the ATM gene… Expand
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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… Expand
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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… Expand
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Highly Cited
1998
Highly Cited
1998
Michael Bamshad, Robert C. Lin, David J. Law, W. Scott Watkins, Patrycja A. Krakowiak, Mary E. Moore, Piergiorgio Franceschini… Expand
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