A splice site mutation is a genetic mutation that inserts, deletes or changes a number of nucleotides in the specific site at which splicing takes place...

different splice-site mutations that have been identified in KTS patients. One is known as c.45+9_45+20del and prevents the recognition of the splice site at...

site selection. Also, point mutations in the underlying DNA or errors during transcription can activate a cryptic splice site in part of the transcript...

gene. This methodology has been used to discover splice sites and disease-causing splice site mutations in the human genome, and has become a standard tool...

a de novo mutation can also  significantly affect its structure and function Splicing Site Alterations Splice site alterations are mutations that disrupt...

neuronal cell migration during development. A mutation of this gene (including nonsense, splice site mutation, insertions, frameshift) has been identified...

homozygosity for a splice site mutation (607830.0008), resulting in a severely truncated protein in both siblings and heterozygosity for the mutation in both parents...

(March 2009). "Identification and characterization of a novel XK splice site mutation in a patient with McLeod syndrome". Transfusion. 49 (3): 479–84....

Insertions in the coding region of a gene may alter splicing of the mRNA (splice site mutation), or cause a shift in the reading frame (frameshift),...

Alternative splicing, alternative RNA splicing, or differential splicing, is an alternative splicing process during gene expression that allows a single...

from Quarter horse ancestors. The cause is a splice site mutation on intron 17. W14 is a deletion mutation on exon 17, found in Thoroughbreds. The founder...

inactivating it. Two gene conversion mutations predominate in SDS patients. One is a splice site mutation affecting the 5' splice site of intron two, while the second...

1021/bi00680a006. PMID 1125201. Parkinson DB, Thakker RV (May 1992). "A donor splice site mutation in the parathyroid hormone gene is associated with autosomal recessive...

specific ratio of the two isoforms normally exists, though the mutation in the intron 9 splice site severely lowers levels of the +KTS isoform; this leads to...

discovering disease-causing splice site mutations. The S&S algorithm has been implemented in many gene-finding and mutation detection tools that are used...

S2CID 37699664. Sinibaldi L, et al. (2010). "A novel homozygous splice site mutation in the HPGD gene causes mild primary hypertrophic osteoarthropathy"...

mutations can affect transcription, splicing, mRNA transport, and translation, any of which could alter phenotype, rendering the synonymous mutation non-silent...

alterations (frameshift deletions/insertions and nonsense mutations), splice-site mutations, missense mutations and others. Deletions, too, in the NH2-terminal...

Siddique Z, McPhaden AR, Lappin DF, Whaley K (December 1991). "An RNA splice site mutation in the C1-inhibitor gene causes type I hereditary angio-oedema"....

et al. (1994). "Sandhoff disease in Argentina: high frequency of a splice site mutation in the HEXB gene and correlation between enzyme and DNA-based tests...

Iris (2011), "Analysis of the Alternative Splicing of an FGFR2 Transcript Due to a Novel 5 ' Splice Site Mutation (1084+1G > A): Case Report", The Cleft...

provides a methodology for detecting splice sites in eukaryotic DNA, and has been used to find splice site mutations that cause hundreds of diseases. The...

that bind to ESEs promote exon splicing by increasing interactions with U2AF35 and U2AF65. Mutation of exonic splicing enhancer motifs is a significant...

400) and Niueans (1.4%). In Polynesians the null allele contains a splice site mutation in intron 5 causing a loss of exon 6 from the mRNA product.[citation...

PMID 17496555. Al-Mosawi, Al-Saad; Ijadi-Maghsoodi, El-Shanti (2007). "A splice site mutation confirms the role of LPIN2 in Majeed syndrome". Arthritis & Rheumatism...

mutation. Six patients were found with de-novo missense mutation and one patient was identified with de-novo splice site mutation. De novo mutation is...

mutation, in conjunction with a mutation at an intron located in the gene in one of the alleles of chromosome 11 resulting in a splice site mutation....

Lahmers S, Keene BW, White SN, Oyama MA, Mauceli E, Lindblad-Toh K. A splice site mutation in a gene encoding for PDK4, a mitochondrial protein, is associated...

is caused by the truncation of pVHL by nonsense mutations, indel mutations or splice site mutations. The VHL protein (pVHL) is involved in the regulation...

70 mutations across generations (parent to child). Among the 25 melanomas, about 6,000 protein-coding genes had missense, nonsense, or splice site mutations...