(Q72176877)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8081387%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

title

Two NF1 mutations: frameshift in the GAP-related domain, and loss of two codons toward the 3' end of the gene (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8081387%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

author name string

Abernathy CR

1

1 reference

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24 October 2019

Colman SD

2

1 reference

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24 October 2019

Kousseff BG

3

1 reference

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24 October 2019

Wallace MR

4

1 reference

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24 October 2019

publication date

1 January 1994

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24 October 2019

1 reference

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24 October 2019

volume

3

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24 October 2019

page(s)

347-352

1 reference

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24 October 2019

issue

4

1 reference

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A new disease-causing mutation in the GAP-related domain of the NF1 gene

24 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030404

7 January 2021

The NF1 locus encodes a protein functionally related to mammalian GAP and yeast IRA proteins

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030404

7 January 2021

Mouse neurofibromatosis type 1 cDNA sequence reveals high degree of conservation of both coding and non-coding mRNA segments.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030404

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.1380030404

7 January 2021

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030404

7 January 2021

https://api.crossref.org/works/10.1002%2FHUMU.1380030404

1 reference

7 January 2021

Neurofibromatosis type 1 gene product (neurofibromin) associates with microtubules

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030404

7 January 2021

A simple and efficient method for direct cloning of PCR products using ddT-tailed vectors

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030404

7 January 2021

Large de novo DNA deletion in a patient with sporadic neurofibromatosis 1, mental retardation, and dysmorphism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030404

7 January 2021

Somatic mutations in the neurofibromatosis 1 gene in human tumors

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030404

7 January 2021

DNA banking: the effects of storage of blood and isolated DNA on the integrity of DNA

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030404

7 January 2021

cDNA cloning of the type 1 neurofibromatosis gene: complete sequence of the NF1 gene product

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030404

7 January 2021

Sequencing and analysis of genomic fragments from the NF1 locus.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030404

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.1380030404

7 January 2021

The neurofibromatosis type 1 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030404

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.1380030404

7 January 2021

Detecting single base substitutions as heteroduplex polymorphisms

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030404

7 January 2021

The catalytic domain of the neurofibromatosis type 1 gene product stimulates ras GTPase and complements ira mutants of S. cerevisiae

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030404

7 January 2021

Identifiers

DOI

10.1002/HUMU.1380030404

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8081387%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

1 reference