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...

predicting splice junctions in genes of animals and plants. This algorithm has been used to discover disease-causing splice site mutations and cryptic splice sites...

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

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...

PMID 26830971. "Activation of a cryptic 5' splice site reverses the impact of pathogenic splice site mutations in the spinal muscular atrophy gene". doi:10...

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...

nonsense, missense, splice-site mutations, and other possible insertion and deletion mutations throughout the entire gene. These mutations cause total absence...

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...

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...

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....

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"....

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...

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

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...

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

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...

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...

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...

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

Hu Z, Liu L, Xie Y, Zhan Y, Zi X, et al. (June 2015). "A SIGMAR1 splice-site mutation causes distal hereditary motor neuropathy". Neurology. 84 (24): 2430–2437...

Bartz U, Lutze G, Lämmle B, Engel W (July 1995). "The novel acceptor splice site mutation 11396(G-->A) in the factor XII gene causes a truncated transcript...

detecting the splice sites, exons and split genes in eukaryotic DNA, and which is the main method for detecting splice site mutations in genes that cause...

Namba T, Pääbo S, Hiller M, Huttner WB (December 2016). "A single splice site mutation in human-specific ARHGAP11B causes basal progenitor amplification"...

splice site mutation in position 180 in exon 6. Some others possess a nonsense mutation (R43X), while the rest are heterozygous for the two mutations...