(Q48062096)

8 February 2018

title

Mutation detection in the med and medJ alleles of the sodium channel Scn8a. Unusual splicing due to a minor class AT-AC intron. (English)

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8 February 2018

author name string

Kohrman DC

series ordinal

1

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8 February 2018

Harris JB

series ordinal

2

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8 February 2018

Meisler MH

series ordinal

3

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8 February 2018

language of work or name

English

0 references

publication date

1 July 1996

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8 February 2018

Journal of Biological Chemistry

number of pages

6

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based on heuristic

inferred from page(s)

published in

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8 February 2018

volume

271

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8 February 2018

issue

29

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8 February 2018

page(s)

17576-17581

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8 February 2018

Basic local alignment search tool

cites work

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.29.17576

Exon recognition in vertebrate splicing

21 January 2018

1 reference

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Mutation of a new sodium channel gene, Scn8a, in the mouse mutant ‘motor endplate disease’

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.29.17576

A cerebellar abnormality in the mouse with motor end-plate disease.

21 January 2018

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Isolation of an active human transposable element

21 January 2018

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Electrophysiological studies of neuromuscular transmission in hereditary 'motor end-plate disease' of the mouse.

21 January 2018

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The length of the downstream exon and the substitution of specific sequences affect pre-mRNA splicing in vitro

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.29.17576

Genomic organization of the human skeletal muscle sodium channel gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.29.17576

Conserved sequences in a class of rare eukaryotic nuclear introns with non-consensus splice sites

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.29.17576

Requirement of U12 snRNA for in vivo splicing of a minor class of eukaryotic nuclear pre-mRNA introns

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.29.17576

A comparative study of "denervation" in muscles from mice with inherited progressive neuromuscular disorders

21 January 2018

1 reference

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Physiological and biochemical studies on the cerebellar cortex of the murine mutants "jolting" and "motor end-plate disease"

21 January 2018

1 reference

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A new retrotransposable human L1 element from the LRE2 locus on chromosome 1q produces a chimaeric insertion

21 January 2018

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A reappraisal of non-consensus mRNA splice sites

21 January 2018

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Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man.

21 January 2018

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Glycine receptor beta-subunit gene mutation in spastic mouse associated with LINE-1 element insertion.

21 January 2018

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

21 January 2018

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Molecular analysis of the para locus, a sodium channel gene in Drosophila.

21 January 2018

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The genomic structure of the human skeletal muscle sodium channel gene

21 January 2018

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The spastic mouse: aberrant splicing of glycine receptor beta subunit mRNA caused by intronic insertion of L1 element.

21 January 2018

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Insertion of a 5' truncated L1 element into the 3' end of exon 44 of the dystrophin gene resulted in skipping of the exon during splicing in a case of Duchenne muscular dystrophy

21 January 2018

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RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

21 January 2018

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5' splice site selection in yeast: genetic alterations in base-pairing with U1 reveal additional requirements

21 January 2018

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Features of spliceosome evolution and function inferred from an analysis of the information at human splice sites.

21 January 2018

1 reference

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A novel spliceosome containing U11, U12, and U5 snRNPs excises a minor class (AT-AC) intron in vitro

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.29.17576

A compensatory base change in U1 snRNA suppresses a 5' splice site mutation

21 January 2018

1 reference

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21 January 2018

Identifiers

DOI

10.1074/JBC.271.29.17576

1 reference

8 February 2018

PubMed ID

8663325

1 reference

8 February 2018