(Q48711323)

14 February 2018

title

Automated splicing mutation analysis by information theory. (English)

1 reference

14 February 2018

0 references

2

1 reference

14 February 2018

author name string

Vijay K Nalla

series ordinal

1

1 reference

14 February 2018

publication date

1 April 2005

1 reference

14 February 2018

published in

Human Mutation

1 reference

14 February 2018

volume

25

1 reference

14 February 2018

issue

4

1 reference

14 February 2018

page(s)

334-342

1 reference

14 February 2018

SR proteins promote the first specific recognition of Pre-mRNA and are present together with the U1 small nuclear ribonucleoprotein particle in a general splicing enhancer complex

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20151

Bipartite pattern discovery by entropy minimization-based multiple local alignment.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20151

7 January 2021

Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20151

7 January 2021

DNA end-joining: from yeast to man

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20151

7 January 2021

Nomenclature for the description of human sequence variations.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20151

7 January 2021

Standardizing mutation nomenclature: why bother?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20151

7 January 2021

The skipping of constitutive exons in vivo induced by nonsense mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20151

7 January 2021

Genome-wide prediction, display and refinement of binding sites with information theory-based models

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20151

7 January 2021

Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20151

7 January 2021

The challenge of documenting mutation across the genome: the human genome variation society approach

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20151

7 January 2021

Identification of 14 novel CTNS mutations and characterization of seven splice site mutations associated with cystinosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20151

7 January 2021

Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20151

7 January 2021

Splice-Site Mutations in Atherosclerosis Candidate Genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20151

7 January 2021

Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20151

7 January 2021

Hepatic CYP2B6 expression: gender and ethnic differences and relationship to CYP2B6 genotype and CAR (constitutive androstane receptor) expression

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20151

7 January 2021

Identification of functional exonic splicing enhancer motifs recognized by individual SR proteins

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20151

7 January 2021

Exonic splicing enhancer motif recognized by human SC35 under splicing conditions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20151

7 January 2021

Molecular characterisation of GSD III subjects and identification of six novel mutations in AGL.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20151

7 January 2021

Mutational analysis of patients with the diagnosis of choroideremia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20151

7 January 2021

Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20151

7 January 2021

SIFT: Predicting amino acid changes that affect protein function

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20151

7 January 2021

The molecular defect in a family with mild atypical osteogenesis imperfecta and extreme joint hypermobility: exon skipping caused by an 11-bp deletion from an intron in one COL1A2 allele

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20151

7 January 2021

Screening of patients with hereditary spastic paraplegia reveals seven novel mutations in the SPG4 (Spastin) gene.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20151

7 January 2021

How neutral are synonymous codon mutations?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20151

7 January 2021

Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20151

7 January 2021

Using information content and base frequencies to distinguish mutations from genetic polymorphisms in splice junction recognition sites.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20151

7 January 2021

Information theory-based analysis of CYP2C19, CYP2D6 and CYP3A5 splicing mutations.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20151

7 January 2021

https://api.crossref.org/works/10.1002%2FHUMU.20151

1 reference

7 January 2021

Sequence walkers: a graphical method to display how binding proteins interact with DNA or RNA sequences

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20151

7 January 2021

PAHdb 2003: what a locus-specific knowledgebase can do.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20151

7 January 2021

Disruption of the splicing enhancer sequence within exon 27 of the dystrophin gene by a nonsense mutation induces partial skipping of the exon and is responsible for Becker muscular dystrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20151

7 January 2021

Anatomy of Escherichia coli ribosome binding sites

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20151

7 January 2021

TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20151

7 January 2021

Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: identification of novel and recurrent deletions by MLPA.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20151

7 January 2021

Exon skipping in IVD RNA processing in isovaleric acidemia caused by point mutations in the coding region of the IVD gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20151

7 January 2021

Mutations in the human DHCR7 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20151

7 January 2021

Identifiers

DOI

10.1002/HUMU.20151

1 reference

14 February 2018

1 reference

14 February 2018