(Q72268674)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8118468%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

title

A novel insertional mutation of a single base in exon 34 of the neurofibromatosis-1 gene (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8118468%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

author name string

Purandare SM

1

1 reference

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25 October 2019

Davidson HR

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8118468%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

Lanyon WG

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8118468%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

Connor JM

4

1 reference

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25 October 2019

publication date

1 January 1994

1 reference

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25 October 2019

1 reference

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25 October 2019

volume

3

1 reference

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25 October 2019

issue

1

1 reference

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25 October 2019

page(s)

76-78

1 reference

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Mutations in the neurofibromatosis 1 gene in sporadic malignant melanoma cell lines

25 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030116

7 January 2021

A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030116

7 January 2021

Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030116

7 January 2021

Recurrence of a nonsense mutation in the NF1 gene causing classical neurofibromatosis type 1.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030116

7 January 2021

Detection of seven point mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria, by direct sequencing of in vitro amplified cDNA

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030116

7 January 2021

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030116

7 January 2021

DNA sequencing with chain-terminating inhibitors

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030116

7 January 2021

A small deletion and an adjacent base exchange in a potential stem-loop region of the neurofibromatosis 1 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030116

7 January 2021

Analysis of mutations at the neurofibromatosis 1 (NF1) locus

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030116

7 January 2021

Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030116

7 January 2021

Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030116

7 January 2021

A de novo Alu insertion results in neurofibromatosis type 1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030116

7 January 2021

Molecular analysis of neurofibromatosis type 1 mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030116

7 January 2021

Identifiers

DOI

10.1002/HUMU.1380030116

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8118468%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

1 reference