(Q54753980)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:13680360%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

title

NF1 exon 7 skipping and sequence alterations in exonic splice enhancers (ESEs) in a neurofibromatosis 1 patient (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:13680360%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

2

1 reference

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16 December 2019

Paola Riva

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:13680360%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

author name string

Patrizia Colapietro

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:13680360%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

Federica Natacci

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:13680360%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

Livia Rossi

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:13680360%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

Lidia Larizza

6

1 reference

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16 December 2019

publication date

6 September 2003

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16 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:13680360%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

volume

113

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16 December 2019

page(s)

551-554

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16 December 2019

issue

6

1 reference

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https://scigraph.springernature.com/pub.10.1007/s00439-003-1009-2

16 December 2019

exact match

0 references

cites work

Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1.

1 reference

12 December 2020

Nearby stop codons in exons of the neurofibromatosis type 1 gene are disparate splice effectors

1 reference

12 December 2020

Illegitimate splicing of the NF1 gene in healthy individuals mimics mutation-induced splicing alterations in NF1 patients

1 reference

12 December 2020

Characterisation of two different nonsense mutations, C6792A and C6792G, causing skipping of exon 37 in the NF1 gene.

1 reference

12 December 2020

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

1 reference

12 December 2020

Predictive identification of exonic splicing enhancers in human genes

1 reference

12 December 2020

Listening to silence and understanding nonsense: exonic mutations that affect splicing

1 reference

12 December 2020

A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes

1 reference

12 December 2020

Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain

1 reference

12 December 2020

Quantification of NF1 transcripts reveals novel highly expressed splice variants.

1 reference

12 December 2020

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

1 reference

12 December 2020

RT-PCR splicing analysis of the NF1 open reading frame

1 reference

12 December 2020

NF1 microdeletion syndrome: refined FISH characterization of sporadic and familial deletions with locus-specific probes.

1 reference

12 December 2020

10.1007/S00439-003-1009-2

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:13680360%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

1 reference