Intronic Mutation

Known as: Intron Mutation 
Any mutation within an intron, including the sequences that comprise the intron boundary.
National Institutes of Health

Papers overview

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2013
2013
BACKGROUND Usher Syndrome is the leading cause of inherited deaf-blindness. It is divided into three subtypes, of which the most… (More)
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2012
2012
X-linked retinitis pigmentosa (XLRP) is genetically heterogeneous with two causative genes identified, RPGR and RP2. We… (More)
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2011
2011
Familial hemophagocytic lymphohistiocytosis (FHL) is an autosomal recessive, often-fatal hyperinflammatory disorder. Mutations in… (More)
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2010
2010
Dihydropyrimidine dehydrogenase (DPD) is the initial enzyme acting in the catabolism of the widely used antineoplastic agent 5… (More)
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2007
2007
Familial forms of retinoblastoma, an embryonic neoplasm of retinal origin, are caused by constitutional mutations of the RB1 gene… (More)
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2004
2004
OBJECTIVES The purpose of this research was to determine whether an intronic variant (T1945+6C) in KCNH2 is a disease-causing… (More)
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2003
2003
Choroideremia (CHM) is a progressive chorioretinal degeneration caused by mutations in the widely expressed CHM gene on… (More)
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2001
2001
Germline mutations of CDKN2A at 9p21 have been shown to predispose to disease in melanoma pedigrees worldwide. However, there… (More)
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Highly Cited
1997
Highly Cited
1997
Batten disease (juvenile-onset neuronal ceroid lipofuscinosis [JNCL]) is an autosomal recessive condition characterized by… (More)
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Highly Cited
1993
Highly Cited
1993
The gene encoding latent-infection membrane protein 1 (LMP1) was specifically mutated in Epstein-Barr virus (EBV) recombinants by… (More)
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